Variant report

Variant	rs11900808
Chromosome Location	chr2:97007007-97007008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97006763..97009572-chr2:97173633..97175254,2	MCF-7	breast:
2	chr2:97005124..97008505-chr2:97011571..97014972,4	K562	blood:
3	chr2:97005219..97008922-chr2:97010120..97013534,4	MCF-7	breast:
4	chr2:96999807..97004328-chr2:97004913..97010440,12	MCF-7	breast:
5	chr2:96873666..96875672-chr2:97006603..97009131,2	K562	blood:
6	chr2:97006581..97009347-chr2:97011114..97012829,3	MCF-7	breast:
7	chr2:96964603..96966846-chr2:97005907..97008831,2	K562	blood:
8	chr2:97005051..97007971-chr2:97016951..97018906,2	K562	blood:
9	chr2:96999907..97005565-chr2:97005819..97011243,10	MCF-7	breast:
10	chr2:97000363..97004034-chr2:97006939..97016132,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204685	Chromatin interaction
ENSG00000163121	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000121152	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11539223	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap]
rs11900551	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903257	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119362	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs17119627	1.00[CHD][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap]
rs17419569	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs72825869	0.91[ASN][1000 genomes]
rs72939635	0.82[ASN][1000 genomes]
rs7588478	1.00[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription 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 target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97001800-97016400	Weak transcription	Spleen	Spleen
2	chr2:97002000-97036000	Weak transcription	Gastric	stomach
3	chr2:97002200-97007200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:97002200-97008000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:97002200-97018800	Weak transcription	Right Atrium	heart
6	chr2:97002200-97037600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:97002400-97007200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:97002400-97007200	Weak transcription	Fetal Brain Female	brain
9	chr2:97002400-97007200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:97002400-97007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:97002400-97007400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:97002400-97007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:97002400-97007400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:97002400-97007600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:97002400-97012600	Weak transcription	Placenta	Placenta
16	chr2:97002400-97016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:97002400-97018800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:97002600-97007200	Weak transcription	Fetal Stomach	stomach
19	chr2:97002600-97007400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:97002600-97007600	Weak transcription	HSMM	muscle
21	chr2:97002600-97009800	Weak transcription	Fetal Kidney	kidney
22	chr2:97002600-97011800	Weak transcription	Small Intestine	intestine
23	chr2:97002600-97017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:97002600-97031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:97002800-97007200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:97002800-97007200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:97002800-97007200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:97002800-97007400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:97002800-97007400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:97002800-97007400	Weak transcription	Fetal Intestine Large	intestine
31	chr2:97002800-97007600	Weak transcription	Fetal Lung	lung
32	chr2:97002800-97007600	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:97002800-97007800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:97002800-97009800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:97002800-97010400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:97002800-97015400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:97002800-97018800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:97002800-97040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:97003000-97007200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:97003000-97007200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:97003000-97007400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:97003000-97007400	Weak transcription	Brain Germinal Matrix	brain
43	chr2:97003000-97007400	Weak transcription	Fetal Intestine Small	intestine
44	chr2:97003000-97007600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:97003000-97007600	Weak transcription	HMEC	breast
46	chr2:97003000-97007600	Weak transcription	HUVEC	blood vessel
47	chr2:97003000-97007600	Weak transcription	NHEK	skin
48	chr2:97003000-97018400	Weak transcription	Fetal Heart	heart
49	chr2:97003200-97007200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:97003200-97007800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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