Variant report

Variant	rs571137309
Chromosome Location	chr7:65879017-65879018
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	MAX	chr7:65878134-65879164	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3AK20	chr7:65878564-65879026	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr7:65878301-65879151	H1-hESC	embryonic stem cell:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
4	CTCF	chr7:65878698-65879085	H1-hESC	embryonic stem cell:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
5	CTCF	chr7:65878654-65879062	GM19238	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
6	MAX	chr7:65878123-65879175	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr7:65878113-65879192	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr7:65878477-65879151	MCF-7	breast:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
9	CTCF	chr7:65878659-65879071	GM12891	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
10	CTCF	chr7:65878661-65879042	GM12892	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
11	ZNF143	chr7:65878644-65879097	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr7:65878202-65879157	MCF-7	breast:	n/a	n/a
13	CTCF	chr7:65878665-65879031	A549	lung:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
14	CTCF	chr7:65878669-65879069	NHEK	skin:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
15	E2F6	chr7:65878198-65879018	A549	lung:	n/a	chr7:65878539-65878548 chr7:65878617-65878626 chr7:65878671-65878681 chr7:65878541-65878550
16	MAX	chr7:65878199-65879043	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr7:65877764-65879379	A549	lung:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
18	RAD21	chr7:65878532-65879236	ECC-1	luminal epithelium:	n/a	chr7:65878786-65878795 chr7:65878809-65878828
19	NRF1	chr7:65877881-65879232	SK-N-SH	brain:	n/a	chr7:65878616-65878630 chr7:65878618-65878627 chr7:65878616-65878625 chr7:65878616-65878627 chr7:65878613-65878627 chr7:65878622-65878631
20	TCF3	chr7:65878681-65879027	GM12878	blood:	n/a	n/a
21	MAX	chr7:65878029-65879116	A549	lung:	n/a	n/a
22	CTCF	chr7:65878621-65879172	GM12878	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
23	CREB1	chr7:65878099-65879124	H1-hESC	embryonic stem cell:	n/a	chr7:65878538-65878551
24	SMC3	chr7:65878649-65879043	GM12878	blood:	n/a	chr7:65878810-65878824
25	POLR2A	chr7:65878176-65879121	H1-neurons	neurons:	n/a	n/a
26	CTCF	chr7:65878639-65879063	MCF-7	breast:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
27	CTCF	chr7:65878693-65879087	GM10248	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
28	CTCF	chr7:65878644-65879082	MCF-7	breast:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
29	E2F6	chr7:65878145-65879207	H1-hESC	embryonic stem cell:	n/a	chr7:65878539-65878548 chr7:65878617-65878626 chr7:65878671-65878681 chr7:65878541-65878550
30	RAD21	chr7:65878458-65879105	A549	lung:	n/a	chr7:65878786-65878795 chr7:65878809-65878828
31	TAF1	chr7:65878415-65879042	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr7:65878321-65879020	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:65878678-65879059	GM13977	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
34	MAX	chr7:65878029-65879174	A549	lung:	n/a	n/a
35	ZEB1	chr7:65878598-65879073	GM12878	blood:	n/a	chr7:65878889-65878896
36	RAD21	chr7:65878321-65879128	SK-N-SH_RA	brain:	n/a	chr7:65878786-65878795 chr7:65878809-65878828
37	RAD21	chr7:65878625-65879117	GM12878	blood:	n/a	chr7:65878786-65878795 chr7:65878809-65878828
38	MXI1	chr7:65877953-65879332	SK-N-SH	brain:	n/a	n/a
39	RAD21	chr7:65878546-65879022	SK-N-SH_RA	brain:	n/a	chr7:65878786-65878795 chr7:65878809-65878828
40	MYC	chr7:65878366-65879074	MCF-7	breast:	n/a	n/a
41	REST	chr7:65878235-65879199	H1-neurons	neurons:	n/a	chr7:65878829-65878847
42	CTCF	chr7:65878900-65879050	Caco-2	colon:	n/a	chr7:65878953-65878971
43	CTCF	chr7:65878704-65879027	GM13976	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
44	RAD21	chr7:65878448-65879220	H1-hESC	embryonic stem cell:	n/a	chr7:65878786-65878795 chr7:65878809-65878828
45	CTCF	chr7:65878558-65879124	MCF-7	breast:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
46	CREB1	chr7:65878196-65879021	A549	lung:	n/a	chr7:65878538-65878551
47	CTCF	chr7:65878554-65879087	Spleen_OC	spleen:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
48	CTCF	chr7:65878679-65879044	GM19240	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
49	POLR2A	chr7:65878573-65879036	H1-neurons	neurons:	n/a	n/a
50	CREB1	chr7:65878189-65879017	GM12878	blood:	n/a	chr7:65878538-65878551

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:65878976-65879026	GM12878	blood:	n/a
2	chr7:65878976-65879026	GM06990	blood:	n/a
3	chr7:65878976-65879026	SK-N-SH	brain:	n/a
4	chr7:65878976-65879026	HRCEpiC	kidney:	n/a
5	chr7:65878976-65879026	AG09309	skin:	n/a
6	chr7:65878976-65879026	AG04449	skin:	fetal
7	chr7:65878976-65879026	GM12891	blood:	n/a
8	chr7:65878976-65879026	RPTEC	kidney:	n/a
9	chr7:65878976-65879026	ovcar-3	ovarian:	n/a
10	chr7:65878976-65879026	H1-hESC	embryonic stem cell:	embryo
11	chr7:65878976-65879026	Jurkat	blood:	n/a
12	chr7:65878976-65879026	GM12892	blood:	n/a
13	chr7:65878976-65879026	HRPEpiC	eye:	n/a
14	chr7:65878976-65879026	SKMC	muscle:	n/a
15	chr7:65878976-65879026	HepG2	liver:	n/a
16	chr7:65878976-65879026	A549	lung:	n/a
17	chr7:65878976-65879026	AG10803	skin:	n/a
18	chr7:65878976-65879026	Hepatocyte	liver:	n/a
19	chr7:65878976-65879026	SAEC	small airway:	n/a
20	chr7:65878976-65879026	HCT-116	colon:	n/a
21	chr7:65878976-65879026	HRE	kidney:	n/a
22	chr7:65878976-65879026	HL-60	blood:	n/a
23	chr7:65878976-65879026	T-47D	breast:	n/a
24	chr7:65878976-65879026	MCF10A-Er-Src	breast:	n/a
25	chr7:65878976-65879026	NHDF-neo	bronchial:	n/a
26	chr7:65878976-65879026	BE2_C	brain:	n/a
27	chr7:65878976-65879026	HEEpiC	esophagus:	n/a
28	chr7:65878976-65879026	NH-A	brain:	n/a
29	chr7:65878976-65879026	NB4	blood:	n/a
30	chr7:65878976-65879026	NT2-D1	testis:	n/a
31	chr7:65878976-65879026	HCPEpiC	choroid plexus:	n/a
32	chr7:65878976-65879026	HCF	heart:	n/a
33	chr7:65878976-65879026	PrEC	prostate:	n/a
34	chr7:65878976-65879026	HMEC	breast:	n/a
35	chr7:65878976-65879026	U87	brain:	n/a
36	chr7:65878976-65879026	HEK293	kidney:	embryo
37	chr7:65878976-65879026	PANC-1	pancreas:	n/a
38	chr7:65878976-65879026	Caco-2	colon:	n/a
39	chr7:65878976-65879026	GM19239	blood:	n/a
40	chr7:65878976-65879026	CMK	blood:	n/a
41	chr7:65878976-65879026	IMR90	lung:	fetal
42	chr7:65878976-65879026	PFSK-1	brain:	n/a
43	chr7:65878976-65879026	HAEpiC	amniotic membrane:	n/a
44	chr7:65878976-65879026	MCF-7	breast:	n/a
45	chr7:65878976-65879026	HUVEC	blood vessel:	n/a
46	chr7:65878976-65879026	K562	blood:	n/a
47	chr7:65878976-65879026	LNCaP	prostate:	n/a
48	chr7:65878976-65879026	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:65878976-65879026	AoSMC	blood vessel:	n/a
50	chr7:65878976-65879026	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65686273..65688117-chr7:65877962..65880122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251451	TF binding region
ENSG00000251451	CpG island
ENSG00000169902	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking 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 miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv981507	chr7:65878773-65886496	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65861800-65880800	Weak transcription	Hela-S3	cervix
2	chr7:65874800-65883600	Weak transcription	HepG2	liver
3	chr7:65875200-65884400	Weak transcription	K562	blood
4	chr7:65876200-65888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:65877000-65888600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:65878000-65879200	Active TSS	Brain Substantia Nigra	brain
7	chr7:65878000-65879400	Active TSS	Brain Angular Gyrus	brain
8	chr7:65878000-65879400	Active TSS	Fetal Kidney	kidney
9	chr7:65878000-65879600	Active TSS	Brain Cingulate Gyrus	brain
10	chr7:65878200-65879200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr7:65878200-65879200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr7:65878200-65879200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:65878200-65879200	Active TSS	Colonic Mucosa	Colon
14	chr7:65878200-65879200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr7:65878200-65879200	Flanking Active TSS	Fetal Brain Male	brain
16	chr7:65878200-65879200	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr7:65878200-65879200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr7:65878200-65879200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr7:65878200-65879400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:65878200-65879400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:65878400-65879200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:65878400-65879200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:65878400-65879200	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:65878400-65879200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr7:65878400-65879200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr7:65878400-65879200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:65878400-65879200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr7:65878400-65879200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:65878400-65879200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:65878400-65879200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr7:65878400-65879200	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr7:65878400-65879200	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr7:65878400-65879200	Flanking Active TSS	Left Ventricle	heart
34	chr7:65878400-65879200	Active TSS	Psoas Muscle	Psoas
35	chr7:65878400-65879200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:65878400-65879200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:65878400-65879200	Active TSS	Right Atrium	heart
38	chr7:65878400-65879200	Active TSS	Right Ventricle	heart
39	chr7:65878400-65879200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr7:65878400-65879200	Flanking Active TSS	HMEC	breast
41	chr7:65878400-65879200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr7:65878400-65879200	Flanking Active TSS	NHEK	skin
43	chr7:65878400-65879400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr7:65878400-65879400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:65878400-65879400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:65878400-65879600	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr7:65878400-65879800	Flanking Active TSS	Placenta	Placenta
48	chr7:65878600-65879200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr7:65878600-65879200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:65878600-65879200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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