Variant report

Variant	rs12994966
Chromosome Location	chr2:98326867-98326868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:98326147-98326881	SK-N-SH	brain:	n/a	chr2:98326521-98326530 chr2:98326359-98326368
2	SMC3	chr2:98326027-98326868	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:98326261..98326935-chr2:99001160..99001766,2	MCF-7	breast:
2	chr2:98321801..98323323-chr2:98325143..98328007,2	MCF-7	breast:
3	chr2:98326109..98328548-chr2:98356181..98358918,2	MCF-7	breast:
4	chr2:98319886..98321866-chr2:98325501..98328367,2	K562	blood:
5	chr2:98326491..98329371-chr2:98358007..98360980,3	MCF-7	breast:
6	chr2:98326428..98327307-chr2:98364548..98365267,2	MCF-7	breast:
7	chr2:98326581..98329549-chr2:98337971..98340144,2	MCF-7	breast:
8	chr2:98326483..98327354-chr2:99001439..99001970,2	K562	blood:
9	chr2:98325414..98327155-chr2:98332598..98334979,2	K562	blood:
10	chr2:98326262..98327256-chr2:98384336..98384968,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZAP70	TF binding region

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1020396	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10496323	0.92[ASN][1000 genomes]
rs11547232	0.92[ASN][1000 genomes]
rs11680855	0.96[ASN][1000 genomes]
rs13000505	0.92[ASN][1000 genomes]
rs13034349	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463174	0.96[ASN][1000 genomes]
rs1800649	0.91[ASN][1000 genomes]
rs2276645	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35211079	0.92[ASN][1000 genomes]
rs55772322	0.91[ASN][1000 genomes]
rs56281704	0.93[ASN][1000 genomes]
rs62157580	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
4	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv33510	chr2:98317103-98341302	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98324400-98327400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:98324600-98329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:98324600-98329400	Enhancers	K562	blood
4	chr2:98325400-98327200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:98325400-98329000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:98325400-98329400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:98326000-98327800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:98326000-98329400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr2:98326200-98327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:98326200-98327000	Enhancers	HepG2	liver
11	chr2:98326200-98327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:98326200-98328200	Enhancers	Placenta	Placenta
13	chr2:98326200-98329000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr2:98326200-98329000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:98326200-98329000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:98326200-98329000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:98326200-98329000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr2:98326200-98329200	Enhancers	Primary T cells from cord blood	blood
19	chr2:98326200-98329200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:98326200-98329200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr2:98326200-98329200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:98326200-98329200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:98326200-98329200	Enhancers	Fetal Thymus	thymus
24	chr2:98326200-98329400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:98326200-98329400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:98326200-98333000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:98326400-98329000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:98326600-98329000	Enhancers	Dnd41	blood
29	chr2:98326600-98329600	Enhancers	Thymus	Thymus
30	chr2:98326800-98329000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:98326800-98329400	Weak transcription	Primary B cells from peripheral blood	blood

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