Variant report

Variant	rs62152867
Chromosome Location	chr2:97535303-97535304
allele	A/G
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	GABPA	chr2:97535218-97535717	H1-hESC	embryonic stem cell:	n/a	chr2:97535496-97535505
2	POLR2A	chr2:97534023-97536845	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:97528950-97536892	K562	blood:	n/a	n/a
4	POLR2A	chr2:97534052-97535908	NB4	blood:	n/a	n/a
5	POLR2A	chr2:97535237-97535999	A549	lung:	n/a	n/a
6	NR2F2	chr2:97534161-97536323	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:97533888-97536135	SK-N-SH	brain:	n/a	chr2:97535952-97535965 chr2:97534826-97534842 chr2:97534403-97534416 chr2:97534545-97534558
8	JUND	chr2:97535114-97535869	A549	lung:	n/a	chr2:97535186-97535195
9	POLR2A	chr2:97534137-97536241	HCT-116	colon:	n/a	n/a
10	MAZ	chr2:97534168-97536188	HepG2	liver:	n/a	chr2:97535876-97535886 chr2:97534898-97534908
11	TBL1XR1	chr2:97535293-97535486	K562	blood:	n/a	n/a
12	POLR2A	chr2:97533894-97535969	MCF10A-Er-Src	breast:	n/a	n/a
13	MAX	chr2:97535197-97535476	K562	blood:	n/a	n/a
14	POLR2A	chr2:97535236-97536036	HUVEC	blood vessel:	n/a	n/a
15	ZBTB7A	chr2:97534065-97536391	K562	blood:	n/a	chr2:97534883-97534897
16	SIN3AK20	chr2:97531740-97537442	MCF-7	breast:	n/a	n/a
17	POLR2A	chr2:97534104-97537233	K562	blood:	n/a	n/a
18	POLR2A	chr2:97535218-97535436	Hela-S3	cervix:	n/a	n/a
19	TCF12	chr2:97534147-97536190	ECC-1	luminal epithelium:	n/a	chr2:97535395-97535405 chr2:97536012-97536022
20	POLR2A	chr2:97534040-97536111	ProgFib	skin:	n/a	n/a
21	POLR2A	chr2:97534110-97537017	K562	blood:	n/a	n/a
22	POLR2A	chr2:97535213-97536090	HepG2	liver:	n/a	n/a
23	ZMIZ1	chr2:97535289-97535429	K562	blood:	n/a	n/a
24	POLR2A	chr2:97534040-97536817	MCF-7	breast:	n/a	n/a
25	MXI1	chr2:97533098-97536322	IMR90	lung:	n/a	n/a
26	HEY1	chr2:97535232-97535860	K562	blood:	n/a	chr2:97535850-97535859 chr2:97535497-97535512 chr2:97535371-97535386 chr2:97535558-97535573 chr2:97535816-97535831 chr2:97535482-97535497 chr2:97535384-97535399
27	ZBTB7A	chr2:97534041-97536698	ECC-1	luminal epithelium:	n/a	chr2:97534883-97534897
28	POLR2A	chr2:97531939-97537196	K562	blood:	n/a	n/a
29	MAZ	chr2:97534161-97537108	K562	blood:	n/a	chr2:97535876-97535886 chr2:97537007-97537015 chr2:97534898-97534908
30	HEY1	chr2:97535214-97535449	K562	blood:	n/a	chr2:97535371-97535386 chr2:97535384-97535399
31	CREB1	chr2:97533406-97536897	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:97534046-97535937	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:97535292-97536806	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:97535199-97536043	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:97533723-97535960	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr2:97534101-97536060	Hela-S3	cervix:	n/a	n/a
37	ELF1	chr2:97535301-97536143	GM12878	blood:	n/a	chr2:97535873-97535885 chr2:97535483-97535492
38	CTCF	chr2:97535260-97535410	GM12869	blood:	n/a	n/a
39	POLR2A	chr2:97534092-97536052	ECC-1	luminal epithelium:	n/a	n/a
40	STAT3	chr2:97534989-97535378	MCF10A-Er-Src	breast:	n/a	chr2:97535068-97535080
41	POLR2A	chr2:97534046-97536039	A549	lung:	n/a	n/a
42	POLR2A	chr2:97534163-97537107	K562	blood:	n/a	n/a
43	JUND	chr2:97534238-97535337	K562	blood:	n/a	chr2:97535186-97535195
44	HDAC2	chr2:97533994-97536205	MCF-7	breast:	n/a	n/a
45	POLR2A	chr2:97528920-97537556	K562	blood:	n/a	n/a
46	MAZ	chr2:97533255-97536341	IMR90	lung:	n/a	chr2:97535876-97535886 chr2:97533299-97533309 chr2:97534898-97534908
47	POLR2A	chr2:97534757-97535373	HUVEC	blood vessel:	n/a	n/a
48	SP1	chr2:97535026-97535442	A549	lung:	n/a	chr2:97535034-97535046 chr2:97535287-97535298 chr2:97535035-97535044 chr2:97535034-97535046 chr2:97535035-97535045 chr2:97535266-97535275 chr2:97535031-97535045
49	POLR2A	chr2:97535209-97536097	GM12892	blood:	n/a	n/a
50	POLR2A	chr2:97535232-97536124	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97534428..97535999-chr7:100026156..100028753,2	MCF-7	breast:
2	chr2:97481648..97486150-chr2:97531417..97538119,10	MCF-7	breast:
3	chr2:97492185..97494409-chr2:97534790..97536451,2	MCF-7	breast:
4	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
5	chr2:96969876..96972169-chr2:97534530..97536512,2	MCF-7	breast:
6	chr2:97522805..97523790-chr2:97534750..97535737,2	MCF-7	breast:
7	chr2:97534494..97537243-chr9:131936741..131939125,2	MCF-7	breast:
8	chr2:97535160..97536953-chr3:161088031..161090726,2	MCF-7	breast:
9	chr2:97533928..97536460-chr2:97620435..97623005,3	K562	blood:
10	chr2:97533737..97536220-chr2:97612669..97617368,4	K562	blood:
11	chr2:97523293..97524013-chr2:97535238..97535808,3	MCF-7	breast:
12	chr2:97534288..97535347-chr2:97616704..97617840,3	MCF-7	breast:
13	chr19:7989356..7991061-chr2:97534254..97536358,2	MCF-7	breast:
14	chr2:97480844..97484629-chr2:97532869..97536982,6	MCF-7	breast:
15	chr2:21021863..21023971-chr2:97534039..97536647,2	MCF-7	breast:
16	chr2:97534744..97537184-chr2:97615647..97618608,4	K562	blood:
17	chr2:97523626..97524737-chr2:97534425..97535359,3	MCF-7	breast:
18	chr2:97506571..97510288-chr2:97534230..97537776,5	MCF-7	breast:
19	chr2:97534211..97537154-chr6:26181504..26183977,2	MCF-7	breast:
20	chr2:97425294..97427081-chr2:97533526..97535772,2	K562	blood:
21	chr2:97534713..97536438-chr6:26537054..26540026,2	MCF-7	breast:

Variant related genes	Relation type
SEMA4C	TF binding region
ENSG00000163126	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000268050	Chromatin interaction
ENSG00000204055	Chromatin interaction
ENSG00000197697	Chromatin interaction
ENSG00000178531	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000269139	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000118961	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000144028	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11885652	0.94[EUR][1000 genomes]
rs58446419	0.94[EUR][1000 genomes]
rs59271006	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6758174	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7581764	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	esv3422720	chr2:97534050-97536598	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97532200-97536200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
2	chr2:97532400-97535600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr2:97532800-97536600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:97533200-97536800	Active TSS	Fetal Kidney	kidney
5	chr2:97533400-97536000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:97533400-97536200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:97533400-97536600	Active TSS	HSMMtube	muscle
8	chr2:97533600-97535600	Active TSS	NHDF-Ad	bronchial
9	chr2:97533600-97536200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:97533600-97536200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:97533600-97536200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:97533600-97536200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:97533600-97536200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:97533600-97536200	Active TSS	Fetal Lung	lung
15	chr2:97533600-97536200	Active TSS	Placenta Amnion	Placenta Amnion
16	chr2:97533600-97536200	Active TSS	GM12878-XiMat	blood
17	chr2:97533600-97536200	Active TSS	HSMM	muscle
18	chr2:97533600-97536200	Active TSS	NHLF	lung
19	chr2:97533600-97536400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:97533600-97536400	Active TSS	Ovary	ovary
21	chr2:97533600-97536400	Active TSS	A549	lung
22	chr2:97533600-97536600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:97533600-97536600	Active TSS	Aorta	Aorta
24	chr2:97533600-97536800	Active TSS	Psoas Muscle	Psoas
25	chr2:97533600-97537000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:97533800-97536200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:97533800-97536200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:97533800-97536200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:97533800-97536200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:97533800-97536200	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr2:97533800-97536200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:97533800-97536200	Active TSS	Fetal Brain Female	brain
33	chr2:97533800-97536200	Active TSS	Fetal Intestine Large	intestine
34	chr2:97533800-97536200	Active TSS	Rectal Smooth Muscle	rectum
35	chr2:97533800-97536200	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr2:97533800-97536200	Bivalent/Poised TSS	HepG2	liver
37	chr2:97533800-97536400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:97533800-97536400	Active TSS	Brain Anterior Caudate	brain
39	chr2:97533800-97536400	Active TSS	K562	blood
40	chr2:97533800-97536600	Active TSS	Right Atrium	heart
41	chr2:97533800-97537000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr2:97533800-97537200	Active TSS	Gastric	stomach
43	chr2:97534000-97535600	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr2:97534000-97536000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:97534000-97536000	Active TSS	Primary T cells from cord blood	blood
46	chr2:97534000-97536000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:97534000-97536000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:97534000-97536200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr2:97534000-97536200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:97534000-97536200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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