Variant report

Variant	rs655382
Chromosome Location	chr6:161414047-161414048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:265)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:161412117-161414075	K562	blood:	n/a	n/a
2	MAX	chr6:161412165-161414129	NB4	blood:	n/a	chr6:161412941-161412950
3	FOXA1	chr6:161413830-161414096	HepG2	liver:	n/a	n/a
4	CTCF	chr6:161413940-161414090	GM12872	blood:	n/a	n/a
5	CTCF	chr6:161413940-161414090	AG09309	skin:	n/a	n/a
6	CTCF	chr6:161413920-161414070	HMF	breast:	n/a	n/a
7	CTCF	chr6:161413920-161414070	HAc	cerebellar:	n/a	n/a
8	MYC	chr6:161411801-161414241	K562	blood:	n/a	chr6:161412941-161412950
9	RAD21	chr6:161413851-161414101	K562	blood:	n/a	n/a
10	CTCF	chr6:161413900-161414050	HRE	kidney:	n/a	n/a
11	CTCF	chr6:161413862-161414067	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr6:161413940-161414090	GM12869	blood:	n/a	n/a
13	MXI1	chr6:161412255-161414082	HepG2	liver:	n/a	n/a
14	FOS	chr6:161413896-161414129	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr6:161413255-161414358	SK-N-SH	brain:	n/a	n/a
16	MAX	chr6:161413847-161414126	K562	blood:	n/a	n/a
17	CTCF	chr6:161413920-161414070	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr6:161413900-161414050	GM12865	blood:	n/a	n/a
19	RAD21	chr6:161413710-161414181	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr6:161413900-161414050	AG04449	skin:	n/a	n/a
21	CTCF	chr6:161413884-161414109	GM13977	blood:	n/a	n/a
22	CTCF	chr6:161413847-161414098	SK-N-SH_RA	brain:	n/a	n/a
23	YY1	chr6:161413828-161414123	GM12878	blood:	n/a	n/a
24	CTCF	chr6:161413920-161414070	GM06990	blood:	n/a	n/a
25	RAD21	chr6:161413741-161414203	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr6:161413920-161414070	RPTEC	kidney:	n/a	n/a
27	UBTF	chr6:161412133-161414134	K562	blood:	n/a	n/a
28	EP300	chr6:161413438-161414159	GM12878	blood:	n/a	chr6:161413934-161413947
29	RAD21	chr6:161413831-161414072	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr6:161413779-161414202	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:161412189-161414076	K562	blood:	n/a	n/a
32	ZMIZ1	chr6:161412256-161414163	K562	blood:	n/a	n/a
33	RAD21	chr6:161413847-161414126	A549	lung:	n/a	n/a
34	CTCF	chr6:161413878-161414082	GM19240	blood:	n/a	n/a
35	CTCF	chr6:161413940-161414090	GM12867	blood:	n/a	n/a
36	CTCF	chr6:161413900-161414050	HEEpiC	esophagus:	n/a	n/a
37	POLR2A	chr6:161412205-161414049	Hela-S3	cervix:	n/a	n/a
38	SMC3	chr6:161413791-161414197	HepG2	liver:	n/a	n/a
39	CTCF	chr6:161413886-161414077	GM12892	blood:	n/a	n/a
40	CTCF	chr6:161413920-161414070	AG10803	skin:	n/a	n/a
41	POLR2A	chr6:161411570-161414072	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr6:161413869-161414115	LNCaP	prostate:	n/a	n/a
43	MAZ	chr6:161411982-161414175	K562	blood:	n/a	chr6:161412941-161412950
44	CTCF	chr6:161413876-161414094	HepG2	liver:	n/a	n/a
45	CTCF	chr6:161413960-161414110	HA-sp	spinal cord:	n/a	n/a
46	KAP1	chr6:161413215-161414211	HEK293	kidney:	n/a	n/a
47	CTCF	chr6:161414000-161414150	HFF	foreskin:	n/a	n/a
48	BHLHE40	chr6:161413323-161414140	HepG2	liver:	n/a	n/a
49	RAD21	chr6:161413758-161414142	GM12878	blood:	n/a	n/a
50	RAD21	chr6:161413643-161414320	HCT-116	colon:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161351755..161352361-chr6:161413554..161414480,3	MCF-7	breast:
2	chr6:161413290..161415523-chr6:161493926..161495745,2	K562	blood:
3	chr6:161171347..161171874-chr6:161413503..161414501,3	K562	blood:
4	chr6:161413545..161416445-chr6:161589800..161592180,2	K562	blood:
5	chr6:161153719..161154752-chr6:161413517..161414074,3	K562	blood:
6	chr6:161412566..161414577-chr6:161651798..161653599,2	K562	blood:
7	chr6:160940621..160941316-chr6:161413631..161414342,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272841	TF binding region
ENSG00000026652	Chromatin interaction
ENSG00000085511	Chromatin interaction
ENSG00000231863	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12174748	0.86[EUR][1000 genomes]
rs12665456	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13200744	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13206391	0.87[EUR][1000 genomes]
rs13209847	0.90[EUR][1000 genomes]
rs35894036	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736569	0.83[EUR][1000 genomes]
rs3778219	0.87[EUR][1000 genomes]
rs3798907	0.90[EUR][1000 genomes]
rs3798910	0.87[EUR][1000 genomes]
rs3798912	0.90[EUR][1000 genomes]
rs3798913	0.90[EUR][1000 genomes]
rs588284	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs589238	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs590988	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs593184	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs594555	0.82[ASN][1000 genomes]
rs594602	0.82[ASN][1000 genomes]
rs619831	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs628075	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs629015	0.86[ASN][1000 genomes]
rs630006	0.82[ASN][1000 genomes]
rs630430	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs643706	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs644110	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs645406	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs657616	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs671335	0.85[ASN][1000 genomes]
rs674220	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs675538	0.95[ASN][1000 genomes]
rs685939	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs686392	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs686755	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6901173	0.82[ASN][1000 genomes]
rs6901968	0.82[ASN][1000 genomes]
rs71565788	0.87[EUR][1000 genomes]
rs787784	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs796835	0.95[ASN][1000 genomes]
rs9355327	0.80[ASN][1000 genomes]
rs9355861	0.87[EUR][1000 genomes]
rs9364587	0.87[EUR][1000 genomes]
rs9365249	0.87[EUR][1000 genomes]
rs9365251	0.87[EUR][1000 genomes]

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	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3357609	chr6:161411812-161414260	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3427182	chr6:161411987-161414535	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161411200-161414600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:161411600-161414200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:161411600-161414400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:161411800-161414200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:161411800-161414200	Active TSS	Brain Angular Gyrus	brain
6	chr6:161411800-161414200	Active TSS	Fetal Kidney	kidney
7	chr6:161411800-161414200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr6:161411800-161414200	Active TSS	Rectal Smooth Muscle	rectum
9	chr6:161411800-161414200	Active TSS	HSMMtube	muscle
10	chr6:161411800-161414400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr6:161411800-161414400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:161411800-161414400	Active TSS	HMEC	breast
13	chr6:161411800-161414400	Active TSS	NH-A	brain
14	chr6:161411800-161417800	Active TSS	GM12878-XiMat	blood
15	chr6:161412000-161414200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:161412000-161414200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:161412000-161414200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:161412000-161414200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:161412000-161414200	Active TSS	Primary T cells fromperipheralblood	blood
20	chr6:161412000-161414200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:161412000-161414200	Active TSS	Colonic Mucosa	Colon
22	chr6:161412000-161414200	Active TSS	Fetal Stomach	stomach
23	chr6:161412000-161414200	Active TSS	Ovary	ovary
24	chr6:161412000-161414200	Active TSS	Psoas Muscle	Psoas
25	chr6:161412000-161414200	Active TSS	Stomach Smooth Muscle	stomach
26	chr6:161412000-161414200	Active TSS	HSMM	muscle
27	chr6:161412000-161414200	Active TSS	NHDF-Ad	bronchial
28	chr6:161412000-161414400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:161412000-161414400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr6:161412000-161414400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:161412000-161414400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr6:161412000-161414400	Active TSS	Osteobl	bone
33	chr6:161412200-161414400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr6:161413200-161414200	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr6:161413200-161414200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr6:161413200-161414400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:161413400-161414200	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr6:161413400-161414200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr6:161413400-161414200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr6:161413400-161414200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:161413400-161414200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr6:161413400-161414200	Active TSS	Brain Germinal Matrix	brain
43	chr6:161413400-161414200	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr6:161413400-161414200	Flanking Active TSS	Fetal Lung	lung
45	chr6:161413400-161414200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr6:161413400-161414400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr6:161413400-161414800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:161413600-161414200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:161413600-161414400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:161413600-161416400	Weak transcription	Spleen	Spleen

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