Variant report

Variant	rs1045311
Chromosome Location	chr2:96068581-96068582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:96068190-96068930	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr2:96068338-96068701	GM12878	blood:	n/a	n/a
3	SMC3	chr2:96068263-96068679	Hela-S3	cervix:	n/a	chr2:96068530-96068537
4	YY1	chr2:96068130-96068753	GM12878	blood:	n/a	chr2:96068609-96068618 chr2:96068391-96068405 chr2:96068549-96068558
5	TCF12	chr2:96068049-96068841	A549	lung:	n/a	n/a
6	CTCF	chr2:96068500-96068650	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr2:96068238-96068813	NB4	blood:	n/a	n/a
8	MXI1	chr2:96067894-96069228	HepG2	liver:	n/a	n/a
9	SP1	chr2:96068114-96068813	A549	lung:	n/a	chr2:96068389-96068401 chr2:96068390-96068399 chr2:96068389-96068401
10	YY1	chr2:96068139-96068720	GM12892	blood:	n/a	chr2:96068609-96068618 chr2:96068391-96068405 chr2:96068549-96068558
11	BHLHE40	chr2:96068128-96068661	K562	blood:	n/a	chr2:96068367-96068383
12	CTCF	chr2:96068546-96068617	GM13976	blood:	n/a	n/a
13	POLR2A	chr2:96068134-96068670	GM12891	blood:	n/a	n/a
14	POLR2A	chr2:96067882-96069296	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:96068116-96068733	GM15510	blood:	n/a	n/a
16	CEBPB	chr2:96068500-96068944	K562	blood:	n/a	n/a
17	POLR2A	chr2:96068076-96068801	ProgFib	skin:	n/a	n/a
18	CREB1	chr2:96068186-96068932	HepG2	liver:	n/a	chr2:96068432-96068445
19	TCF12	chr2:96068153-96068837	ECC-1	luminal epithelium:	n/a	n/a
20	HDAC2	chr2:96068165-96068791	HepG2	liver:	n/a	chr2:96068559-96068567
21	YY1	chr2:96068199-96068687	A549	lung:	n/a	chr2:96068609-96068618 chr2:96068391-96068405 chr2:96068549-96068558
22	RFX5	chr2:96068246-96068642	GM12878	blood:	n/a	n/a
23	MYC	chr2:96067898-96069307	K562	blood:	n/a	n/a
24	HDAC2	chr2:96068305-96068622	K562	blood:	n/a	chr2:96068559-96068567
25	REST	chr2:96067850-96069031	H1-neurons	neurons:	n/a	chr2:96068654-96068667
26	BRCA1	chr2:96068253-96068607	GM12878	blood:	n/a	n/a
27	TCF7L2	chr2:96068223-96068856	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr2:96068149-96068739	MCF-7	breast:	n/a	n/a
29	POLR2A	chr2:96067818-96069292	Hela-S3	cervix:	n/a	n/a
30	NFIC	chr2:96068221-96068823	ECC-1	luminal epithelium:	n/a	n/a
31	CREB1	chr2:96068142-96068866	A549	lung:	n/a	chr2:96068432-96068445
32	CTCF	chr2:96068460-96068610	HCPEpiC	choroid plexus:	n/a	n/a
33	MAZ	chr2:96068152-96068755	K562	blood:	n/a	n/a
34	ATF2	chr2:96068194-96068670	GM12878	blood:	n/a	n/a
35	MAX	chr2:96068236-96068618	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr2:96068142-96068803	K562	blood:	n/a	n/a
37	HEY1	chr2:96067954-96069376	K562	blood:	n/a	chr2:96068433-96068442 chr2:96068435-96068444
38	POLR2A	chr2:96068170-96068667	A549	lung:	n/a	n/a
39	BCL3	chr2:96068352-96068691	A549	lung:	n/a	chr2:96068608-96068617 chr2:96068605-96068618
40	POLR2A	chr2:96067878-96069396	K562	blood:	n/a	n/a
41	POLR2A	chr2:96068115-96068844	K562	blood:	n/a	n/a
42	POLR2A	chr2:96068002-96068990	PFSK-1	brain:	n/a	n/a
43	CHD2	chr2:96068298-96068581	H1-hESC	embryonic stem cell:	n/a	n/a
44	IRF1	chr2:96068154-96068680	K562	blood:	n/a	chr2:96068387-96068401
45	TBP	chr2:96068237-96068792	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr2:96068137-96069297	K562	blood:	n/a	n/a
47	ELF1	chr2:96068244-96068637	K562	blood:	n/a	n/a
48	POLR2A	chr2:96067726-96069739	HepG2	liver:	n/a	n/a
49	CHD2	chr2:96068171-96068854	HepG2	liver:	n/a	chr2:96068193-96068200
50	SMC3	chr2:96068523-96068641	HepG2	liver:	n/a	chr2:96068530-96068537

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96068327..96068925-chr3:23957909..23958508,2	Hela-S3	cervix:

Variant related genes	Relation type
FAHD2A	TF binding region
ENSG00000174748	Chromatin interaction
ENSG00000197885	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35276926	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv961829	chr2:96043414-96069177	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96067200-96068600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:96067200-96069200	Active TSS	HSMM	muscle
3	chr2:96067400-96068800	Active TSS	HSMMtube	muscle
4	chr2:96067400-96069200	Active TSS	NHDF-Ad	bronchial
5	chr2:96067400-96069400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:96067400-96069600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:96067600-96069200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:96067600-96069200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:96067600-96069200	Active TSS	Fetal Intestine Large	intestine
10	chr2:96067600-96069400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:96067600-96069600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:96067600-96069600	Active TSS	Fetal Kidney	kidney
13	chr2:96067800-96068800	Active TSS	NH-A	brain
14	chr2:96067800-96069000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr2:96067800-96069000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:96067800-96069000	Active TSS	Fetal Stomach	stomach
17	chr2:96067800-96069000	Active TSS	Stomach Mucosa	stomach
18	chr2:96067800-96069000	Bivalent/Poised TSS	HepG2	liver
19	chr2:96067800-96069200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:96067800-96069200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:96067800-96069200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr2:96067800-96069200	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr2:96067800-96069200	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr2:96067800-96069200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:96067800-96069200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:96067800-96069200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:96067800-96069200	Active TSS	Brain Angular Gyrus	brain
28	chr2:96067800-96069200	Active TSS	Brain Anterior Caudate	brain
29	chr2:96067800-96069200	Active TSS	Brain Cingulate Gyrus	brain
30	chr2:96067800-96069200	Active TSS	Brain Substantia Nigra	brain
31	chr2:96067800-96069200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:96067800-96069200	Active TSS	Fetal Brain Female	brain
33	chr2:96067800-96069200	Active TSS	Fetal Lung	lung
34	chr2:96067800-96069200	Active TSS	Fetal Thymus	thymus
35	chr2:96067800-96069200	Active TSS	Gastric	stomach
36	chr2:96067800-96069200	Active TSS	Ovary	ovary
37	chr2:96067800-96069200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr2:96067800-96069200	Active TSS	Psoas Muscle	Psoas
39	chr2:96067800-96069200	Active TSS	Small Intestine	intestine
40	chr2:96067800-96069200	Active TSS	GM12878-XiMat	blood
41	chr2:96067800-96069200	Active TSS	Hela-S3	cervix
42	chr2:96067800-96069200	Active TSS	K562	blood
43	chr2:96067800-96069200	Active TSS	NHLF	lung
44	chr2:96067800-96069400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:96067800-96069400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:96067800-96069400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:96067800-96069400	Active TSS	Brain Hippocampus Middle	brain
48	chr2:96067800-96069400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:96067800-96069400	Active TSS	Colon Smooth Muscle	Colon
50	chr2:96067800-96069400	Active TSS	Fetal Intestine Small	intestine

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