Variant report

Variant	rs72941219
Chromosome Location	chr2:97300739-97300740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
2	chr2:97300473..97305040-chr2:97425563..97430425,4	MCF-7	breast:
3	chr2:97280954..97282617-chr2:97300423..97302279,2	MCF-7	breast:
4	chr2:97295918..97298197-chr2:97299685..97302124,2	MCF-7	breast:
5	chr2:97299005..97302154-chr2:97360237..97363363,3	K562	blood:
6	chr2:97299733..97305587-chr2:97425305..97429139,7	K562	blood:
7	chr2:97299848..97302209-chr2:97302318..97304171,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158158	Chromatin interaction
ENSG00000249715	Chromatin interaction
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10175415	0.84[AFR][1000 genomes]
rs10183164	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10185002	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10199227	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10203766	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10209315	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13384114	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13389475	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13393729	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13395011	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13398740	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13405842	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2292942	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35715176	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55687728	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55716397	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs59398186	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59426746	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60326991	0.89[ASN][1000 genomes]
rs61063398	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6718340	0.89[ASN][1000 genomes]
rs6732115	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6733589	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753713	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72939379	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72941209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72941214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72941235	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs747757	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7604736	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7607990	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:97261200-97301600	Strong transcription	Fetal Thymus	thymus
3	chr2:97285400-97302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:97285800-97302800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:97288400-97301800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:97289000-97300800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:97289600-97301400	Strong transcription	Fetal Intestine Large	intestine
8	chr2:97291000-97302000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:97292200-97301400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:97292200-97301800	Weak transcription	Stomach Mucosa	stomach
11	chr2:97292200-97302400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:97292200-97302400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:97292200-97302600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:97292400-97302200	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:97292600-97301000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:97292600-97301400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:97292600-97301400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:97292800-97301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:97292800-97302000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:97293000-97301200	Strong transcription	Fetal Stomach	stomach
21	chr2:97293200-97301000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:97293400-97302000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:97293600-97300800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:97293600-97301200	Strong transcription	Primary B cells from cord blood	blood
25	chr2:97294800-97300800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:97294800-97302800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:97296000-97300800	Strong transcription	Rectal Smooth Muscle	rectum
28	chr2:97296000-97302600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:97296400-97301000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:97296800-97301000	Strong transcription	Fetal Intestine Small	intestine
31	chr2:97297000-97301000	Strong transcription	Liver	Liver
32	chr2:97297200-97300800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:97297200-97301000	Weak transcription	Brain Substantia Nigra	brain
34	chr2:97297200-97301400	Weak transcription	Spleen	Spleen
35	chr2:97297200-97301600	Weak transcription	Fetal Brain Male	brain
36	chr2:97297200-97301800	Weak transcription	HUVEC	blood vessel
37	chr2:97297200-97302000	Weak transcription	Brain Angular Gyrus	brain
38	chr2:97297200-97302600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:97297200-97302800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:97297400-97300800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:97297400-97302000	Weak transcription	Colonic Mucosa	Colon
42	chr2:97297400-97302000	Weak transcription	HMEC	breast
43	chr2:97297600-97301200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:97297600-97302200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:97297800-97302800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:97298200-97301000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:97298200-97301200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:97298200-97301600	Weak transcription	Pancreas	Pancrea
49	chr2:97298200-97302000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:97298200-97302600	Weak transcription	Gastric	stomach

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