Variant report

Variant	rs532461962
Chromosome Location	chr6:27832099-27832100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:27831980-27832883	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:27831639-27835944	MCF-7	breast:	n/a	n/a
3	POLR2A	chr6:27831648-27832275	K562	blood:	n/a	n/a
4	POLR2A	chr6:27831681-27835663	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:27831704-27832195	GM12891	blood:	n/a	n/a
6	POLR2A	chr6:27831729-27832216	MCF-7	breast:	n/a	n/a
7	POLR2A	chr6:27831657-27832203	GM12892	blood:	n/a	n/a
8	POLR2A	chr6:27831846-27835556	GM18526	blood:	n/a	n/a
9	POLR2A	chr6:27831541-27835704	PBDE	blood:	n/a	n/a
10	POLR2A	chr6:27831721-27832524	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:27831948-27832261	K562	blood:	n/a	n/a
12	PML	chr6:27831870-27835678	GM12878	blood:	n/a	n/a
13	CTCF	chr6:27832060-27832210	GM12864	blood:	n/a	n/a
14	POLR2A	chr6:27831798-27835562	GM18505	blood:	n/a	n/a
15	BCLAF1	chr6:27831818-27832455	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:27831786-27832144	K562	blood:	n/a	n/a
17	POLR2A	chr6:27831706-27835550	GM12891	blood:	n/a	n/a
18	POLR2A	chr6:27831646-27832468	GM12891	blood:	n/a	n/a
19	POLR2A	chr6:27831868-27832372	GM15510	blood:	n/a	n/a
20	POLR2A	chr6:27831635-27832340	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:27831857-27835567	GM18951	blood:	n/a	n/a
22	POLR2A	chr6:27831719-27832333	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:27831639-27835590	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:27831833-27832240	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:27831891-27832289	K562	blood:	n/a	n/a
26	WRNIP1	chr6:27831986-27832177	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:27831698-27832533	K562	blood:	n/a	n/a
28	BCLAF1	chr6:27831843-27832478	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:27831666-27832152	GM12892	blood:	n/a	n/a
30	MXI1	chr6:27831650-27836500	SK-N-SH	brain:	n/a	n/a
31	RUNX3	chr6:27831792-27835617	GM12878	blood:	n/a	n/a
32	CTCF	chr6:27831960-27832110	HBMEC	blood vessel:	n/a	n/a
33	POLR2A	chr6:27831739-27835519	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:27831758-27832108	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:27831684-27832101	ProgFib	skin:	n/a	n/a
36	MTA3	chr6:27831574-27835630	GM12878	blood:	n/a	n/a
37	RUNX3	chr6:27831634-27835715	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27832098-27832148	GM12892	blood:	n/a
2	chr6:27832098-27832148	AG04450	lung:	fetal
3	chr6:27832098-27832148	K562	blood:	n/a
4	chr6:27832098-27832148	HL-60	blood:	n/a
5	chr6:27832098-27832148	Hela-S3	cervix:	n/a
6	chr6:27832098-27832148	BE2_C	brain:	n/a
7	chr6:27832098-27832148	SAEC	small airway:	n/a
8	chr6:27832098-27832148	HCT-116	colon:	n/a
9	chr6:27832098-27832148	AG09309	skin:	n/a
10	chr6:27832098-27832148	GM19239	blood:	n/a
11	chr6:27832098-27832148	NH-A	brain:	n/a
12	chr6:27832098-27832148	HEEpiC	esophagus:	n/a
13	chr6:27832098-27832148	MCF-7	breast:	n/a
14	chr6:27832098-27832148	SK-N-SH	brain:	n/a
15	chr6:27832098-27832148	HMEC	breast:	n/a
16	chr6:27832098-27832148	Jurkat	blood:	n/a
17	chr6:27832098-27832148	HCF	heart:	n/a
18	chr6:27832098-27832148	AoSMC	blood vessel:	n/a
19	chr6:27832098-27832148	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:27832098-27832148	HCM	heart:	n/a
21	chr6:27832098-27832148	ECC-1	luminal epithelium:	n/a
22	chr6:27832098-27832148	HCPEpiC	choroid plexus:	n/a
23	chr6:27832098-27832148	U87	brain:	n/a
24	chr6:27832098-27832148	BJ	skin:	n/a
25	chr6:27832098-27832148	NHDF-neo	bronchial:	n/a
26	chr6:27832098-27832148	NB4	blood:	n/a
27	chr6:27832098-27832148	H1-hESC	embryonic stem cell:	embryo
28	chr6:27832098-27832148	SKMC	muscle:	n/a
29	chr6:27832098-27832148	HUVEC	blood vessel:	n/a
30	chr6:27832098-27832148	GM12891	blood:	n/a
31	chr6:27832098-27832148	HNPCEpiC	eye:	n/a
32	chr6:27832098-27832148	A549	lung:	n/a
33	chr6:27832098-27832148	ProgFib	skin:	n/a
34	chr6:27832098-27832148	GM06990	blood:	n/a
35	chr6:27832098-27832148	NHBE	bronchial:	n/a
36	chr6:27832098-27832148	PANC-1	pancreas:	n/a
37	chr6:27832098-27832148	ovcar-3	ovarian:	n/a
38	chr6:27832098-27832148	HIPEpiC	eye:	n/a
39	chr6:27832098-27832148	NT2-D1	testis:	n/a
40	chr6:27832098-27832148	SK-N-MC	brain:	n/a
41	chr6:27832098-27832148	LNCaP	prostate:	n/a
42	chr6:27832098-27832148	Caco-2	colon:	n/a
43	chr6:27832098-27832148	PrEC	prostate:	n/a
44	chr6:27832098-27832148	HRCEpiC	kidney:	n/a
45	chr6:27832098-27832148	GM12878	blood:	n/a
46	chr6:27832098-27832148	AG09319	gingival:	n/a
47	chr6:27832098-27832148	IMR90	lung:	fetal
48	chr6:27832098-27832148	RPTEC	kidney:	n/a
49	chr6:27832098-27832148	SK-N-SH_RA	brain:	n/a
50	chr6:27832098-27832148	HRPEpiC	eye:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27831862..27832453-chr6:27860944..27861525,2	HCT-116	colon:
2	chr6:26154866..26157028-chr6:27832028..27836151,3	MCF-7	breast:
3	chr6:27100613..27102138-chr6:27831418..27834082,2	K562	blood:
4	chr6:27098113..27100606-chr6:27830587..27832158,2	K562	blood:
5	chr6:26215814..26218576-chr6:27831262..27835058,4	K562	blood:
6	chr6:27832024..27834412-chr6:44214386..44216392,2	MCF-7	breast:
7	chr6:27115160..27117823-chr6:27831838..27833565,2	MCF-7	breast:
8	chr17:56707936..56710461-chr6:27831380..27834313,2	MCF-7	breast:
9	chr6:27831507..27834483-chr6:28890233..28891763,2	MCF-7	breast:
10	chr6:27113113..27117592-chr6:27831181..27837403,7	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2AL	TF binding region
HIST1H2AL	CpG island
ENSG00000197903	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000124635	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases
7	nsv965699	chr6:27831604-27833574	Enhancers Flanking Active TSS Active TSS Weak transcription 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	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27830400-27832200	Flanking Active TSS	GM12878-XiMat	blood
2	chr6:27830800-27832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:27830800-27835800	Active TSS	K562	blood
4	chr6:27831200-27832800	Weak transcription	HepG2	liver
5	chr6:27831200-27835800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:27831200-27835800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:27831400-27833000	Weak transcription	Hela-S3	cervix
8	chr6:27831400-27833800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
9	chr6:27831400-27834400	Active TSS	NHDF-Ad	bronchial
10	chr6:27831400-27835600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:27831600-27832200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:27831600-27832200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:27831600-27832400	Enhancers	Stomach Mucosa	stomach
14	chr6:27831600-27832600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:27831600-27832800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:27831600-27833400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:27831600-27833400	Active TSS	Fetal Intestine Small	intestine
18	chr6:27831600-27835400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:27831600-27835600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:27831600-27835800	Active TSS	Fetal Kidney	kidney
21	chr6:27831800-27832200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:27831800-27832200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr6:27831800-27832200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:27831800-27832200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:27831800-27832200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:27831800-27832200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
27	chr6:27831800-27832200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr6:27831800-27832200	Flanking Active TSS	Esophagus	oesophagus
29	chr6:27831800-27832200	Active TSS	Fetal Stomach	stomach
30	chr6:27831800-27832200	Flanking Active TSS	Left Ventricle	heart
31	chr6:27831800-27832200	Enhancers	Pancreas	Pancrea
32	chr6:27831800-27832200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr6:27831800-27832200	Flanking Active TSS	Dnd41	blood
34	chr6:27831800-27832200	Flanking Active TSS	NHEK	skin
35	chr6:27831800-27832200	Flanking Active TSS	NHLF	lung
36	chr6:27831800-27832400	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr6:27831800-27832400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr6:27831800-27832400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr6:27831800-27832400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
40	chr6:27831800-27832400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr6:27831800-27832400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
42	chr6:27831800-27832400	Enhancers	Spleen	Spleen
43	chr6:27831800-27832400	Flanking Active TSS	HUVEC	blood vessel
44	chr6:27831800-27832400	Flanking Active TSS	NH-A	brain
45	chr6:27831800-27832600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:27831800-27832600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr6:27831800-27832600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr6:27831800-27832600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr6:27831800-27832600	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr6:27831800-27832600	Flanking Active TSS	Fetal Muscle Leg	muscle

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