Variant report

Variant	rs28583701
Chromosome Location	chr7:6770113-6770114
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	MTA3	chr7:6768884-6770122	GM12878	blood:	n/a	n/a
2	SIN3A	chr7:6769057-6770204	H1-hESC	embryonic stem cell:	n/a	chr7:6769397-6769408
3	POLR2A	chr7:6768936-6770212	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr7:6769968-6770145	HepG2	liver:	n/a	n/a
5	SIN3A	chr7:6770045-6770123	GM12878	blood:	n/a	n/a
6	MXI1	chr7:6769069-6770133	GM12878	blood:	n/a	n/a
7	MAX	chr7:6769953-6770119	K562	blood:	n/a	n/a
8	POLR2A	chr7:6768951-6770528	GM12892	blood:	n/a	n/a
9	EGR1	chr7:6769869-6770205	K562	blood:	n/a	chr7:6770093-6770106 chr7:6770094-6770105 chr7:6770009-6770022 chr7:6770096-6770105 chr7:6770093-6770106
10	EGR1	chr7:6769858-6770280	K562	blood:	n/a	chr7:6770093-6770106 chr7:6770094-6770105 chr7:6770009-6770022 chr7:6770096-6770105 chr7:6770093-6770106
11	UBTF	chr7:6769216-6770156	K562	blood:	n/a	n/a
12	MAX	chr7:6769835-6770228	A549	lung:	n/a	n/a
13	MAZ	chr7:6768803-6770326	IMR90	lung:	n/a	n/a
14	POLR2A	chr7:6770045-6770203	MCF-7	breast:	n/a	n/a
15	MAX	chr7:6769052-6770215	K562	blood:	n/a	n/a
16	RCOR1	chr7:6769986-6770153	K562	blood:	n/a	n/a
17	MYC	chr7:6769848-6770157	NB4	blood:	n/a	n/a
18	POLR2A	chr7:6769086-6770203	K562	blood:	n/a	n/a
19	POLR2A	chr7:6770064-6770128	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:6770056-6770561	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:6769067-6770160	Hela-S3	cervix:	n/a	n/a
22	ELF1	chr7:6769081-6770231	GM12878	blood:	n/a	chr7:6769400-6769409 chr7:6769340-6769353
23	MYC	chr7:6769166-6770113	K562	blood:	n/a	n/a
24	MAZ	chr7:6769148-6770130	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr7:6769179-6770167	IMR90	lung:	n/a	n/a
26	POLR2A	chr7:6768928-6770410	GM12878	blood:	n/a	n/a
27	MAX	chr7:6769015-6770251	A549	lung:	n/a	n/a
28	SIN3AK20	chr7:6769210-6770141	PANC-1	pancreas:	n/a	n/a
29	MAX	chr7:6769074-6770230	NB4	blood:	n/a	n/a
30	HEY1	chr7:6770069-6770507	K562	blood:	n/a	n/a
31	RUNX3	chr7:6769933-6770154	GM12878	blood:	n/a	n/a
32	MXI1	chr7:6768871-6770343	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr7:6770106-6770474	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:6768791-6771030	GM12878	blood:	n/a	n/a
35	MYC	chr7:6769176-6770113	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr7:6770024-6770167	MCF-7	breast:	n/a	n/a
37	POLR2A	chr7:6768813-6770522	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr7:6768995-6770409	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:6768962-6770540	GM12892	blood:	n/a	n/a
40	HDAC2	chr7:6769936-6770127	K562	blood:	n/a	n/a
41	IRF4	chr7:6770035-6770510	GM12878	blood:	n/a	n/a
42	MAX	chr7:6769915-6770133	K562	blood:	n/a	n/a
43	POLR2A	chr7:6769726-6770181	SK-N-SH	brain:	n/a	n/a
44	SIN3AK20	chr7:6769969-6770191	K562	blood:	n/a	n/a
45	POLR2A	chr7:6768998-6770163	HUVEC	blood vessel:	n/a	n/a
46	ZBTB7A	chr7:6769747-6770177	K562	blood:	n/a	n/a
47	MAZ	chr7:6769108-6770236	K562	blood:	n/a	n/a
48	E2F6	chr7:6769808-6770133	K562	blood:	n/a	n/a
49	CBX3	chr7:6769851-6770383	K562	blood:	n/a	n/a
50	ZNF263	chr7:6769131-6770242	HEK293-T-REx	kidney:	n/a	chr7:6770171-6770180

No.	Distal block	Cell Line	Cell type
1	chr7:6746161..6747688-chr7:6768318..6771249,2	MCF-7	breast:
2	chr7:6768428..6771621-chr7:6773707..6775724,3	MCF-7	breast:
3	chr7:6675529..6677980-chr7:6768487..6770695,2	K562	blood:
4	chr7:6744871..6747873-chr7:6767656..6771321,4	K562	blood:
5	chr7:6745224..6747442-chr7:6767898..6770902,3	MCF-7	breast:

Variant related genes	Relation type
PMS2CL	TF binding region
ENSG00000205903	Chromatin interaction
ENSG00000187953	Chromatin interaction
ENSG00000164631	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10238584	1.00[AMR][1000 genomes]
rs10239585	1.00[AMR][1000 genomes]
rs10243146	1.00[AMR][1000 genomes]
rs10258222	1.00[AMR][1000 genomes]
rs10259284	1.00[AMR][1000 genomes]
rs28371147	0.83[AFR][1000 genomes]
rs28472669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28541724	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28665420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr7:6768200-6770600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:6768600-6770200	Active TSS	Duodenum Mucosa	Duodenum
3	chr7:6768600-6770200	Active TSS	Fetal Heart	heart
4	chr7:6768600-6770200	Active TSS	Stomach Smooth Muscle	stomach
5	chr7:6768600-6770400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:6768600-6770400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr7:6768600-6770400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:6768600-6770400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr7:6768600-6770400	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr7:6768600-6770400	Active TSS	Brain Anterior Caudate	brain
11	chr7:6768600-6770400	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr7:6768600-6770600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:6768600-6770600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:6768600-6770600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:6768600-6770600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:6768600-6770600	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:6768600-6770600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:6768600-6770600	Active TSS	Brain Angular Gyrus	brain
19	chr7:6768600-6770600	Active TSS	Brain Hippocampus Middle	brain
20	chr7:6768600-6770600	Active TSS	Colon Smooth Muscle	Colon
21	chr7:6768600-6770600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:6768600-6770600	Active TSS	Fetal Intestine Small	intestine
23	chr7:6768600-6770800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:6768600-6770800	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:6768600-6770800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr7:6768600-6770800	Active TSS	Fetal Brain Female	brain
27	chr7:6768600-6770800	Active TSS	HSMM	muscle
28	chr7:6768600-6771000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:6768600-6771000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:6768600-6771000	Active TSS	Rectal Smooth Muscle	rectum
31	chr7:6768800-6770600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:6768800-6770600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:6768800-6770600	Active TSS	Fetal Intestine Large	intestine
34	chr7:6768800-6770600	Active TSS	Fetal Kidney	kidney
35	chr7:6768800-6770600	Active TSS	Thymus	Thymus
36	chr7:6768800-6771000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr7:6769000-6770200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:6769000-6770200	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr7:6769000-6770200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:6769000-6770200	Active TSS	Lung	lung
41	chr7:6769000-6770200	Active TSS	Placenta Amnion	Placenta Amnion
42	chr7:6769000-6770200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr7:6769000-6770200	Active TSS	Stomach Mucosa	stomach
44	chr7:6769000-6770400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr7:6769000-6770400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:6769000-6770400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:6769000-6770400	Active TSS	Gastric	stomach
48	chr7:6769000-6770400	Active TSS	Left Ventricle	heart
49	chr7:6769000-6770400	Active TSS	Ovary	ovary
50	chr7:6769000-6770400	Active TSS	Pancreas	Pancrea

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