Variant report

Variant	rs9973880
Chromosome Location	chr2:86379226-86379227
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86378335..86380430-chr2:86441493..86443159,2	K562	blood:
2	chr2:86366197..86371549-chr2:86375005..86380562,7	K562	blood:
3	chr2:86377589..86379904-chr2:86390172..86393109,2	K562	blood:
4	chr2:86377367..86380060-chr2:86380862..86383817,2	MCF-7	breast:
5	chr2:86378791..86380363-chr2:86381432..86382995,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10165327	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10168635	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10171798	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10174095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10175597	0.81[AFR][1000 genomes]
rs10179466	0.97[AFR][1000 genomes]
rs10193712	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1019591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1036554	0.81[ASN][1000 genomes]
rs10427394	0.81[JPT][hapmap]
rs11899576	0.81[ASN][1000 genomes]
rs12328075	0.85[AFR][1000 genomes]
rs12612513	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12614260	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12617717	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12620810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12621992	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12622009	0.82[ASN][1000 genomes]
rs12622715	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs12624126	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13384563	0.83[ASN][1000 genomes]
rs13390702	0.81[ASN][1000 genomes]
rs13393659	0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs13394650	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs13401184	0.94[AFR][1000 genomes]
rs13402568	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs13403007	0.84[AFR][1000 genomes]
rs13403541	0.94[YRI][hapmap];0.80[AFR][1000 genomes]
rs13413723	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs13422309	0.85[AFR][1000 genomes]
rs13430553	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1559516	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1561328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17026854	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17026975	0.93[YRI][hapmap]
rs17027011	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17584578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17618001	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2018608	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2164879	0.82[ASN][1000 genomes]
rs2241435	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2241437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278085	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278086	0.85[AMR][1000 genomes]
rs2278087	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2278088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2288121	0.85[CHB][hapmap]
rs2289237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2303339	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2303340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28483806	0.81[AFR][1000 genomes]
rs28617344	0.84[AFR][1000 genomes]
rs311567	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs3731819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770081	0.83[EUR][1000 genomes]
rs3770087	1.00[CEU][hapmap];0.82[ASN][1000 genomes]
rs3770089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs3770090	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3810827	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4832242	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4832250	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs4832255	0.81[JPT][hapmap]
rs4832256	0.81[JPT][hapmap]
rs56104203	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57020255	0.94[AFR][1000 genomes]
rs57062037	0.89[AFR][1000 genomes]
rs57083584	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57398459	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57817729	0.92[AFR][1000 genomes]
rs59947468	0.85[AMR][1000 genomes]
rs60479377	0.85[AMR][1000 genomes]
rs60649958	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60719866	0.85[AMR][1000 genomes]
rs60768598	0.84[AFR][1000 genomes]
rs6750765	0.85[ASN][1000 genomes]
rs73943946	0.81[ASN][1000 genomes]
rs73947314	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs749579	0.81[JPT][hapmap]
rs9309631	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs9789563	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86335000-86409000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86335200-86380800	Strong transcription	Fetal Thymus	thymus
3	chr2:86335400-86394000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:86335400-86408800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:86335600-86394000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:86335600-86401000	Strong transcription	Placenta	Placenta
7	chr2:86335600-86407400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:86335600-86408600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:86336000-86380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:86336000-86401200	Strong transcription	Adipose Nuclei	Adipose
11	chr2:86336600-86394200	Strong transcription	Primary T cells from cord blood	blood
12	chr2:86336800-86407400	Strong transcription	Dnd41	blood
13	chr2:86341200-86379400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:86342000-86388000	Strong transcription	A549	lung
15	chr2:86342000-86399800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:86342400-86379400	Strong transcription	HSMM	muscle
17	chr2:86342400-86380600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:86342600-86380800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:86342600-86394000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:86342800-86408600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:86342800-86408600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:86343000-86408600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:86356000-86379600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:86361000-86383600	Strong transcription	Fetal Intestine Small	intestine
25	chr2:86366000-86393200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:86366200-86385200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:86367400-86380400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:86367600-86403400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:86368000-86402000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:86368200-86400600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:86368400-86389800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:86368800-86379400	Strong transcription	HepG2	liver
33	chr2:86370600-86379800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:86370600-86401400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:86371200-86398400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:86374200-86380800	Strong transcription	NH-A	brain
37	chr2:86374400-86379400	Strong transcription	Colon Smooth Muscle	Colon
38	chr2:86374400-86380800	Strong transcription	K562	blood
39	chr2:86375200-86385400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:86375200-86397000	Weak transcription	Small Intestine	intestine
41	chr2:86375600-86383800	Weak transcription	Psoas Muscle	Psoas
42	chr2:86376400-86387200	Weak transcription	Fetal Heart	heart
43	chr2:86376600-86383800	Weak transcription	HSMMtube	muscle
44	chr2:86376600-86384200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:86377600-86403200	Weak transcription	Stomach Mucosa	stomach
46	chr2:86378000-86383800	Weak transcription	Hela-S3	cervix
47	chr2:86378000-86384000	Weak transcription	Fetal Brain Male	brain
48	chr2:86378200-86383800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:86378200-86387000	Weak transcription	Pancreas	Pancrea
50	chr2:86378600-86380000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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