Variant report

Variant	rs367836600
Chromosome Location	chr6:31778458-31778459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr6:31778327-31778581	K562	blood:	n/a	n/a
2	ESR1	chr6:31778208-31778582	ECC-1	luminal epithelium:	n/a	chr6:31778361-31778376

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31778408-31778458	NT2-D1	testis:	n/a
2	chr6:31778408-31778458	ProgFib	skin:	n/a
3	chr6:31778408-31778458	H1-hESC	embryonic stem cell:	embryo
4	chr6:31778408-31778458	HRPEpiC	eye:	n/a
5	chr6:31778408-31778458	GM12891	blood:	n/a
6	chr6:31778408-31778458	Hela-S3	cervix:	n/a
7	chr6:31778408-31778458	AoSMC	blood vessel:	n/a
8	chr6:31778408-31778458	NHDF-neo	bronchial:	n/a
9	chr6:31778408-31778458	Hepatocyte	liver:	n/a
10	chr6:31778408-31778458	AG04450	lung:	fetal
11	chr6:31778408-31778458	ECC-1	luminal epithelium:	n/a
12	chr6:31778408-31778458	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:31778408-31778458	K562	blood:	n/a
14	chr6:31778408-31778458	MCF10A-Er-Src	breast:	n/a
15	chr6:31778408-31778458	AG09319	gingival:	n/a
16	chr6:31778408-31778458	AG09309	skin:	n/a
17	chr6:31778408-31778458	HL-60	blood:	n/a
18	chr6:31778408-31778458	IMR90	lung:	fetal
19	chr6:31778408-31778458	GM06990	blood:	n/a
20	chr6:31778408-31778458	PANC-1	pancreas:	n/a
21	chr6:31778408-31778458	HRCEpiC	kidney:	n/a
22	chr6:31778408-31778458	HUVEC	blood vessel:	n/a
23	chr6:31778408-31778458	GM12878	blood:	n/a
24	chr6:31778408-31778458	AG10803	skin:	n/a
25	chr6:31778408-31778458	HIPEpiC	eye:	n/a
26	chr6:31778408-31778458	NH-A	brain:	n/a
27	chr6:31778408-31778458	SK-N-SH	brain:	n/a
28	chr6:31778408-31778458	NHBE	bronchial:	n/a
29	chr6:31778408-31778458	CMK	blood:	n/a
30	chr6:31778408-31778458	MCF-7	breast:	n/a
31	chr6:31778408-31778458	A549	lung:	n/a
32	chr6:31778408-31778458	HCF	heart:	n/a
33	chr6:31778408-31778458	NB4	blood:	n/a
34	chr6:31778408-31778458	GM12892	blood:	n/a
35	chr6:31778408-31778458	HCT-116	colon:	n/a
36	chr6:31778408-31778458	HepG2	liver:	n/a
37	chr6:31778408-31778458	U87	brain:	n/a
38	chr6:31778408-31778458	HEEpiC	esophagus:	n/a
39	chr6:31778408-31778458	GM19239	blood:	n/a
40	chr6:31778408-31778458	HCM	heart:	n/a
41	chr6:31778408-31778458	AG04449	skin:	fetal
42	chr6:31778408-31778458	HRE	kidney:	n/a
43	chr6:31778408-31778458	SAEC	small airway:	n/a
44	chr6:31778408-31778458	HNPCEpiC	eye:	n/a
45	chr6:31778408-31778458	LNCaP	prostate:	n/a
46	chr6:31778408-31778458	ovcar-3	ovarian:	n/a
47	chr6:31778408-31778458	HAEpiC	amniotic membrane:	n/a
48	chr6:31778408-31778458	PFSK-1	brain:	n/a
49	chr6:31778408-31778458	SK-N-MC	brain:	n/a
50	chr6:31778408-31778458	HEK293	kidney:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31762241..31764929-chr6:31776890..31779670,2	MCF-7	breast:
2	chr6:31778125..31780067-chr6:31938272..31940991,2	MCF-7	breast:
3	chr6:31702718..31704412-chr6:31776913..31779697,2	MCF-7	breast:
4	chr6:31707248..31709508-chr6:31776899..31779251,2	MCF-7	breast:

No data

Variant related genes	Relation type
LSM2	TF binding region
HSPA1A	TF binding region
HSPA1A	CpG island
LSM2	CpG island
ENSG00000204348	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000204344	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000213719	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
10	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
11	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
12	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
13	nsv884426	chr6:31728102-31800868	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv884427	chr6:31728102-31802465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers 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 target site	152 gene(s)	inside rSNPs	diseases
15	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
17	nsv884430	chr6:31731881-31800631	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
18	nsv823502	chr6:31777657-31779623	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
19	nsv823503	chr6:31778269-31779736	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
20	nsv462872	chr6:31778272-31864304	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
21	nsv601945	chr6:31778272-31864304	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31774600-31780600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:31774600-31781400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:31774600-31781600	Weak transcription	Aorta	Aorta
4	chr6:31774800-31780800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:31774800-31781000	Weak transcription	Psoas Muscle	Psoas
6	chr6:31774800-31781200	Weak transcription	Spleen	Spleen
7	chr6:31774800-31781400	Weak transcription	Brain Angular Gyrus	brain
8	chr6:31774800-31781400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:31774800-31781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:31774800-31781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:31774800-31781800	Weak transcription	Pancreas	Pancrea
12	chr6:31774800-31782600	Weak transcription	Lung	lung
13	chr6:31774800-31783000	Weak transcription	Gastric	stomach
14	chr6:31775000-31780600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:31775000-31780600	Weak transcription	HMEC	breast
16	chr6:31775000-31781200	Weak transcription	HSMMtube	muscle
17	chr6:31775000-31781400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:31775000-31781600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:31775000-31781600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:31775000-31781600	Weak transcription	Colonic Mucosa	Colon
21	chr6:31775000-31781600	Weak transcription	Right Atrium	heart
22	chr6:31775200-31779400	Weak transcription	GM12878-XiMat	blood
23	chr6:31775200-31780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:31775200-31780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:31775200-31781000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:31775200-31781000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:31775200-31781000	Weak transcription	Stomach Mucosa	stomach
28	chr6:31775200-31781200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:31775200-31781400	Weak transcription	Brain Anterior Caudate	brain
30	chr6:31775200-31781400	Weak transcription	Brain Substantia Nigra	brain
31	chr6:31775200-31781400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:31775200-31781400	Weak transcription	Fetal Intestine Large	intestine
33	chr6:31775200-31781400	Weak transcription	Fetal Intestine Small	intestine
34	chr6:31775200-31781400	Weak transcription	Fetal Kidney	kidney
35	chr6:31775200-31781400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:31775200-31781600	Weak transcription	Fetal Lung	lung
37	chr6:31775400-31778800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:31775400-31780200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:31775400-31780400	Weak transcription	Primary B cells from cord blood	blood
40	chr6:31775400-31780600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:31775400-31780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:31775400-31781000	Weak transcription	Fetal Thymus	thymus
43	chr6:31775400-31781200	Weak transcription	Adipose Nuclei	Adipose
44	chr6:31775400-31781200	Weak transcription	Fetal Brain Male	brain
45	chr6:31775600-31780800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:31775600-31781200	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:31775600-31781800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:31775800-31781400	Weak transcription	Brain Germinal Matrix	brain
49	chr6:31775800-31781600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:31776000-31780400	Weak transcription	K562	blood

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