Variant report

Variant	rs3918211
Chromosome Location	chr7:150710907-150710908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:100)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:100 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:150710579-150711233	SK-N-SH	brain:	n/a	n/a
2	CREB1	chr7:150710785-150711313	GM12878	blood:	n/a	n/a
3	YY1	chr7:150710818-150711202	GM12878	blood:	n/a	n/a
4	SIN3AK20	chr7:150710777-150711064	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:150710796-150711161	GM12878	blood:	n/a	n/a
6	MXI1	chr7:150710756-150711198	GM12878	blood:	n/a	n/a
7	ELF1	chr7:150710755-150711664	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:150710773-150711159	K562	blood:	n/a	n/a
9	HDAC2	chr7:150710797-150711025	K562	blood:	n/a	n/a
10	BHLHE40	chr7:150710799-150711148	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:150710776-150711303	HL-60	blood:	n/a	n/a
12	PML	chr7:150710802-150711349	GM12878	blood:	n/a	n/a
13	YY1	chr7:150710784-150711137	GM12878	blood:	n/a	chr7:150710796-150710807 chr7:150710796-150710805
14	CTCF	chr7:150710820-150710970	BJ	skin:	n/a	n/a
15	MXI1	chr7:150710669-150711227	IMR90	lung:	n/a	n/a
16	CTCF	chr7:150710880-150711030	GM12871	blood:	n/a	n/a
17	POLR2A	chr7:150710845-150710938	ProgFib	skin:	n/a	n/a
18	CTCF	chr7:150710880-150711030	GM06990	blood:	n/a	n/a
19	PAX5	chr7:150710720-150711043	GM12878	blood:	n/a	chr7:150710759-150710768
20	CTCF	chr7:150710840-150710990	GM12869	blood:	n/a	n/a
21	POLR2A	chr7:150710248-150711083	K562	blood:	n/a	n/a
22	POLR2A	chr7:150710814-150711322	GM12892	blood:	n/a	n/a
23	CTCF	chr7:150710800-150710950	HVMF	connective:	n/a	n/a
24	HMGN3	chr7:150710847-150711278	K562	blood:	n/a	n/a
25	CTCF	chr7:150710857-150711039	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELK1	chr7:150710854-150711431	GM12878	blood:	n/a	n/a
27	MAX	chr7:150710804-150710964	K562	blood:	n/a	n/a
28	CTCF	chr7:150710775-150711126	SK-N-SH_RA	brain:	n/a	chr7:150710777-150710786 chr7:150710777-150710790
29	CTCF	chr7:150710873-150711004	GM19238	blood:	n/a	n/a
30	POLR2A	chr7:150710782-150711105	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF3	chr7:150710791-150711090	GM12878	blood:	n/a	n/a
32	RUNX3	chr7:150710669-150711245	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:150710788-150711336	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:150710844-150711441	K562	blood:	n/a	n/a
35	MYC	chr7:150710850-150711033	GM12878	blood:	n/a	n/a
36	POU2F2	chr7:150710778-150711119	GM12878	blood:	n/a	n/a
37	CTCF	chr7:150710820-150710970	AG04449	skin:	n/a	n/a
38	ATF2	chr7:150710755-150711185	GM12878	blood:	n/a	chr7:150710981-150710995
39	CTCF	chr7:150710880-150711030	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr7:150710825-150711243	Fibrobl	skin:	n/a	n/a
41	CTCF	chr7:150710880-150711030	HL-60	blood:	n/a	n/a
42	TCF12	chr7:150710787-150711001	H1-hESC	embryonic stem cell:	n/a	n/a
43	RUNX3	chr7:150710720-150711228	GM12878	blood:	n/a	n/a
44	MYC	chr7:150710808-150711021	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr7:150710901-150711085	GM12878	blood:	n/a	n/a
46	EP300	chr7:150710839-150711045	GM12878	blood:	n/a	n/a
47	PAX5	chr7:150710734-150711227	GM12878	blood:	n/a	chr7:150710759-150710768
48	CTCF	chr7:150710850-150711215	ProgFib	skin:	n/a	n/a
49	MXI1	chr7:150709550-150711788	SK-N-SH	brain:	n/a	n/a
50	SP1	chr7:150710777-150711125	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150710016..150711023-chr7:150807320..150808378,4	K562	blood:
2	chr7:150706188..150708123-chr7:150710621..150712135,2	MCF-7	breast:
3	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:

No data

Variant related genes	Relation type
ATG9B	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11976118	1.00[ASN][1000 genomes]
rs11977913	1.00[ASN][1000 genomes]
rs73472561	1.00[ASN][1000 genomes]
rs73474675	1.00[ASN][1000 genomes]
rs7776772	1.00[ASN][1000 genomes]

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	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
8	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv889474	chr7:150705842-150717153	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150705000-150711000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:150705800-150711000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:150706000-150711000	Enhancers	Primary T cells from cord blood	blood
4	chr7:150706000-150711000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr7:150706000-150711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr7:150707600-150711000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr7:150707800-150714200	Weak transcription	Dnd41	blood
8	chr7:150708200-150711000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:150708200-150711000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr7:150708400-150711000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:150708400-150711000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr7:150709400-150711000	Enhancers	Fetal Lung	lung
13	chr7:150709400-150711200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr7:150709600-150711000	Enhancers	Placenta	Placenta
15	chr7:150709800-150711000	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr7:150709800-150711600	Enhancers	Fetal Heart	heart
17	chr7:150710000-150711000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:150710000-150711000	Bivalent Enhancer	Liver	Liver
19	chr7:150710000-150711400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:150710000-150711600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:150710000-150714800	Weak transcription	HUVEC	blood vessel
22	chr7:150710200-150711000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:150710200-150711000	Enhancers	NHDF-Ad	bronchial
24	chr7:150710200-150711000	Bivalent/Poised TSS	Osteobl	bone
25	chr7:150710200-150711200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:150710200-150711400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:150710200-150711400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:150710200-150711400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:150710200-150711400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:150710200-150711400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:150710200-150711400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:150710200-150711400	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr7:150710200-150711600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:150710200-150711600	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr7:150710200-150711600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:150710200-150711800	Enhancers	Fetal Brain Male	brain
37	chr7:150710200-150715000	Weak transcription	A549	lung
38	chr7:150710400-150711000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:150710400-150711000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:150710400-150711000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr7:150710400-150711000	Active TSS	Brain Angular Gyrus	brain
42	chr7:150710400-150711000	Enhancers	Small Intestine	intestine
43	chr7:150710400-150711000	Flanking Bivalent TSS/Enh	Thymus	Thymus
44	chr7:150710400-150711000	Bivalent Enhancer	NH-A	brain
45	chr7:150710400-150711200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:150710400-150711200	Active TSS	Brain Substantia Nigra	brain
47	chr7:150710400-150711400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:150710400-150711400	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr7:150710400-150711400	Flanking Active TSS	HMEC	breast
50	chr7:150710400-150711600	Active TSS	H9 Cell Line	embryonic stem cell

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