Variant report

Variant	rs73728976
Chromosome Location	chr6:31696928-31696929
allele	C/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	RAD21	chr6:31696640-31698493	SK-N-SH	brain:	n/a	n/a
2	TEAD4	chr6:31696522-31699163	K562	blood:	n/a	n/a
3	POLR2A	chr6:31695670-31699628	K562	blood:	n/a	n/a
4	NR2F2	chr6:31694887-31699102	K562	blood:	n/a	n/a
5	TBL1XR1	chr6:31696282-31698329	K562	blood:	n/a	n/a
6	STAT5A	chr6:31696873-31698965	K562	blood:	n/a	chr6:31698284-31698292
7	PML	chr6:31696928-31698517	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:31696886-31700880	HepG2	liver:	n/a	n/a
9	BCLAF1	chr6:31696366-31699221	K562	blood:	n/a	chr6:31697428-31697441
10	ZMIZ1	chr6:31696913-31698951	K562	blood:	n/a	n/a
11	POLR2A	chr6:31696544-31699049	GM12892	blood:	n/a	n/a
12	POLR2A	chr6:31696855-31699061	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr6:31696328-31698372	K562	blood:	n/a	n/a
14	RAD21	chr6:31696753-31698368	HCT-116	colon:	n/a	n/a
15	POLR2A	chr6:31696874-31699065	PANC-1	pancreas:	n/a	n/a
16	PML	chr6:31696520-31699193	K562	blood:	n/a	n/a
17	CHD2	chr6:31696383-31698184	K562	blood:	n/a	n/a
18	POLR2A	chr6:31696453-31698886	HepG2	liver:	n/a	n/a
19	CBX3	chr6:31696920-31697744	K562	blood:	n/a	n/a
20	CBX3	chr6:31696849-31699021	K562	blood:	n/a	n/a
21	POLR2A	chr6:31696914-31699070	U87	brain:	n/a	n/a
22	TAF1	chr6:31696918-31698367	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr6:31696916-31698487	A549	lung:	n/a	chr6:31697426-31697436
24	POLR2A	chr6:31696866-31698827	GM12892	blood:	n/a	n/a
25	ZNF143	chr6:31696769-31698217	K562	blood:	n/a	chr6:31697647-31697657
26	SIN3AK20	chr6:31696893-31698253	MCF-7	breast:	n/a	n/a
27	POLR2A	chr6:31696417-31700658	K562	blood:	n/a	n/a
28	POLR2A	chr6:31696400-31696948	GM12878	blood:	n/a	n/a
29	CTCF	chr6:31696884-31698461	A549	lung:	n/a	chr6:31697292-31697310 chr6:31697630-31697640 chr6:31697293-31697309
30	EGR1	chr6:31696869-31698187	MCF-7	breast:	n/a	chr6:31697330-31697340 chr6:31698132-31698139
31	SIN3AK20	chr6:31696681-31698477	MCF-7	breast:	n/a	n/a
32	MAX	chr6:31696916-31698401	ECC-1	luminal epithelium:	n/a	chr6:31697426-31697436
33	PML	chr6:31696509-31700235	K562	blood:	n/a	n/a
34	CEBPD	chr6:31694533-31698562	K562	blood:	n/a	n/a
35	POLR2A	chr6:31696297-31696977	MCF-7	breast:	n/a	n/a
36	HDAC2	chr6:31696870-31697937	K562	blood:	n/a	n/a
37	SP1	chr6:31696813-31698349	H1-hESC	embryonic stem cell:	n/a	chr6:31697620-31697629 chr6:31697634-31697644 chr6:31697330-31697340 chr6:31698041-31698053 chr6:31697635-31697644 chr6:31698043-31698052 chr6:31697620-31697629 chr6:31697618-31697630 chr6:31697619-31697628 chr6:31697330-31697344 chr6:31697331-31697340 chr6:31697330-31697339 chr6:31698043-31698052 chr6:31698061-31698071 chr6:31697619-31697629 chr6:31697329-31697341 chr6:31697330-31697340 chr6:31697329-31697341 chr6:31697330-31697339 chr6:31698061-31698071 chr6:31698041-31698053 chr6:31698042-31698051 chr6:31697634-31697644 chr6:31697618-31697630 chr6:31697618-31697629
38	POLR2A	chr6:31696432-31698384	MCF-7	breast:	n/a	n/a
39	ZBTB7A	chr6:31696799-31698372	K562	blood:	n/a	chr6:31697805-31697813
40	EGR1	chr6:31696697-31698585	K562	blood:	n/a	chr6:31697330-31697340 chr6:31698132-31698139
41	ELF1	chr6:31696887-31698326	GM12878	blood:	n/a	n/a
42	POLR2A	chr6:31696634-31698611	ProgFib	skin:	n/a	n/a
43	POLR2A	chr6:31696859-31698980	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr6:31696869-31698846	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr6:31696906-31698870	HUVEC	blood vessel:	n/a	n/a
46	NR2F2	chr6:31696928-31698616	K562	blood:	n/a	n/a
47	ELF1	chr6:31696925-31698425	MCF-7	breast:	n/a	n/a
48	POLR2A	chr6:31696919-31698852	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr6:31696488-31698242	Hela-S3	cervix:	n/a	n/a
50	BCL3	chr6:31696914-31698379	K562	blood:	n/a	chr6:31697428-31697441

No.	Distal block	Cell Line	Cell type
1	chr6:31694918..31699964-chr6:31826467..31832957,9	K562	blood:
2	chr6:31513237..31516038-chr6:31696007..31697508,2	K562	blood:
3	chr6:26124251..26127166-chr6:31695138..31698033,2	K562	blood:
4	chr6:31594249..31597266-chr6:31695833..31699351,4	MCF-7	breast:
5	chr6:31696408..31700150-chr6:31800226..31805691,5	MCF-7	breast:
6	chr19:18497054..18498621-chr6:31695966..31697891,2	K562	blood:
7	chr6:31696116..31699055-chr6:31743914..31747307,3	MCF-7	breast:
8	chr6:31696888..31697817-chr6:31762900..31763783,2	K562	blood:
9	chr6:31646949..31648911-chr6:31695355..31697312,2	MCF-7	breast:
10	chr6:31633131..31635177-chr6:31694151..31697063,2	MCF-7	breast:
11	chr6:31695390..31696984-chr6:31762234..31763768,2	MCF-7	breast:
12	chr6:31668218..31672980-chr6:31695553..31699160,10	MCF-7	breast:
13	chr5:137798816..137801346-chr6:31695628..31697899,2	K562	blood:

Variant related genes	Relation type
DDAH2	TF binding region
ENSG00000263020	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000266776	Chromatin interaction
ENSG00000201555	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000120738	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000204435	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28399973	1.00[AMR][1000 genomes]
rs35537518	1.00[AMR][1000 genomes]
rs56291059	0.92[AFR][1000 genomes]
rs73728972	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer 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	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
15	nsv884425	chr6:31688518-31698544	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 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	chr6:31693600-31697200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr6:31693600-31697400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:31694600-31697800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr6:31694800-31698800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:31695000-31699000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:31695200-31697000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr6:31695200-31697200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:31695400-31697400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr6:31695400-31697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:31695400-31698400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:31695600-31697200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr6:31695600-31698400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr6:31695600-31698400	Active TSS	Fetal Kidney	kidney
14	chr6:31695800-31697000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:31695800-31697000	Enhancers	K562	blood
16	chr6:31695800-31698200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:31696000-31698200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:31696000-31698400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:31696000-31698400	Active TSS	Aorta	Aorta
20	chr6:31696200-31697000	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr6:31696200-31697000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
22	chr6:31696200-31697200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr6:31696200-31697200	Enhancers	GM12878-XiMat	blood
24	chr6:31696200-31697400	Active TSS	Right Atrium	heart
25	chr6:31696200-31697600	Flanking Active TSS	Colonic Mucosa	Colon
26	chr6:31696200-31698200	Active TSS	Rectal Smooth Muscle	rectum
27	chr6:31696200-31698400	Active TSS	Colon Smooth Muscle	Colon
28	chr6:31696400-31697000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:31696400-31697000	Flanking Active TSS	Esophagus	oesophagus
30	chr6:31696400-31697000	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr6:31696400-31697000	Flanking Active TSS	Fetal Lung	lung
32	chr6:31696400-31697000	Flanking Active TSS	Placenta	Placenta
33	chr6:31696400-31697000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr6:31696400-31697000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr6:31696400-31697200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr6:31696400-31697200	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr6:31696400-31697200	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr6:31696400-31697200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:31696400-31697200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:31696400-31697200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr6:31696400-31697200	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr6:31696400-31697200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:31696400-31697200	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr6:31696400-31697200	Flanking Active TSS	Fetal Brain Male	brain
45	chr6:31696400-31697200	Flanking Active TSS	HUVEC	blood vessel
46	chr6:31696400-31697200	Flanking Active TSS	NH-A	brain
47	chr6:31696400-31697200	Flanking Active TSS	Osteobl	bone
48	chr6:31696400-31697400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr6:31696400-31697800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:31696400-31697800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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