Variant report

Variant	rs36101759
Chromosome Location	chr7:86974654-86974655
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:288)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:288 , 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	GATA3	chr7:86974223-86974801	T-47D	breast:	n/a	n/a
2	BHLHE40	chr7:86974398-86975308	GM12878	blood:	n/a	chr7:86975026-86975042
3	ELF1	chr7:86974423-86975088	K562	blood:	n/a	n/a
4	SP1	chr7:86974395-86975278	GM12878	blood:	n/a	chr7:86975127-86975139 chr7:86974955-86974966 chr7:86975127-86975139 chr7:86975129-86975138 chr7:86975128-86975137 chr7:86975128-86975138
5	SP2	chr7:86974634-86975067	HepG2	liver:	n/a	chr7:86974901-86974916
6	POLR2A	chr7:86974463-86975249	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr7:86974540-86975223	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:86974367-86975285	GM18526	blood:	n/a	n/a
9	POLR2A	chr7:86974481-86975227	PANC-1	pancreas:	n/a	n/a
10	PML	chr7:86974449-86975190	GM12878	blood:	n/a	n/a
11	JUND	chr7:86974648-86975228	A549	lung:	n/a	n/a
12	POLR2A	chr7:86974246-86975233	SK-N-SH	brain:	n/a	n/a
13	YY1	chr7:86974424-86974836	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:86974598-86974875	GM12891	blood:	n/a	n/a
15	TBP	chr7:86974446-86975016	Hela-S3	cervix:	n/a	n/a
16	MBD4	chr7:86974542-86975098	HepG2	liver:	n/a	n/a
17	TAF1	chr7:86974290-86975175	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr7:86974167-86975295	U87	brain:	n/a	n/a
19	POLR2A	chr7:86973791-86975643	GM12891	blood:	n/a	n/a
20	POLR2A	chr7:86974372-86975422	MCF-7	breast:	n/a	n/a
21	CHD2	chr7:86974605-86975144	Hela-S3	cervix:	n/a	chr7:86974833-86974843 chr7:86975053-86975063
22	POLR2A	chr7:86974373-86975410	SK-N-MC	brain:	n/a	n/a
23	ZNF263	chr7:86974265-86975462	HEK293-T-REx	kidney:	n/a	n/a
24	POLR2A	chr7:86974291-86975366	GM15510	blood:	n/a	n/a
25	TAF1	chr7:86974436-86975343	MCF-7	breast:	n/a	n/a
26	CHD2	chr7:86974557-86975189	HepG2	liver:	n/a	chr7:86974833-86974843 chr7:86975053-86975063
27	REST	chr7:86974403-86975239	SK-N-SH	brain:	n/a	n/a
28	STAT5A	chr7:86974494-86975390	GM12878	blood:	n/a	n/a
29	GTF2F1	chr7:86974401-86974693	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr7:86974305-86975581	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:86974302-86975370	Gliobla	brain:	n/a	n/a
32	MAX	chr7:86974286-86975351	A549	lung:	n/a	n/a
33	TBP	chr7:86974486-86975263	K562	blood:	n/a	n/a
34	CHD2	chr7:86974500-86975484	K562	blood:	n/a	chr7:86974833-86974843 chr7:86975053-86975063
35	SIN3AK20	chr7:86973756-86975497	MCF-7	breast:	n/a	n/a
36	GABPA	chr7:86974462-86975255	MCF-7	breast:	n/a	chr7:86975128-86975137
37	MAZ	chr7:86974439-86975243	K562	blood:	n/a	n/a
38	POLR2A	chr7:86974269-86975397	GM18951	blood:	n/a	n/a
39	BHLHE40	chr7:86974318-86975213	K562	blood:	n/a	chr7:86975026-86975042
40	HDAC2	chr7:86974446-86975280	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:86974396-86975267	GM12878	blood:	n/a	n/a
42	MYBL2	chr7:86974629-86975689	HepG2	liver:	n/a	n/a
43	CREB1	chr7:86974528-86975238	H1-hESC	embryonic stem cell:	n/a	n/a
44	NFIC	chr7:86974354-86975315	GM12878	blood:	n/a	n/a
45	SIN3A	chr7:86974378-86975265	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr7:86974428-86975159	A549	lung:	n/a	n/a
47	SIN3A	chr7:86974539-86975141	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:86974470-86975417	K562	blood:	n/a	n/a
49	POLR2A	chr7:86974223-86975523	GM19099	blood:	n/a	n/a
50	POLR2A	chr7:86974129-86975620	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86973803..86976722-chr7:86989973..86992500,2	MCF-7	breast:
2	chr6:133135224..133137195-chr7:86974442..86977103,2	MCF-7	breast:
3	chr7:86972969..86975918-chr7:87004365..87006027,2	K562	blood:
4	chr7:86971875..86975040-chr7:87004120..87006743,3	MCF-7	breast:
5	chr7:86973059..86975261-chr7:86988667..86991001,2	MCF-7	breast:
6	chr7:86973027..86976593-chr7:87504303..87507795,3	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCB4-1	chr7:86974621-86974802	ENSG00000182165
2	lnc-ABCB4-1	chr7:86974359-86974831	ENSG00000182165
3	lnc-ABCB4-1	chr7:86974621-86974831	ENSG00000182165
4	lnc-ABCB4-1	chr7:86974621-86974802	ENSG00000182165
5	lnc-ABCB4-1	chr7:86974550-86974802	ENSG00000182165
6	lnc-ABCB4-1	chr7:86974359-86974808	XLOC_006516
7	lnc-ABCB4-1	chr7:86974621-86974831	XLOC_006516
8	lnc-ABCB4-1	chr7:86974621-86974837	XLOC_006516
9	lnc-ABCB4-1	chr7:86974359-86974755	NONHSAT121825
10	lnc-ABCB4-1	chr7:86974359-86974808	NR_015381
11	lnc-ABCB4-1	chr7:86974359-86974779	ENSG00000182165.13
12	lnc-ABCB4-1	chr7:86974621-86974883	NONHSAT121828
13	lnc-ABCB4-1	chr7:86974621-86974845	NONHSAT121831
14	lnc-ABCB4-1	chr7:86974621-86974819	NONHSAT121830
15	lnc-ABCB4-1	chr7:86974621-86974852	NONHSAT121827

No data

Variant related genes	Relation type
CROT	TF binding region
ENSG00000006634	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000005469	Chromatin interaction
ENSG00000075303	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10499902	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11971666	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11973839	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11973893	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11975317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975323	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975766	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11976069	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976398	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977095	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977237	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983904	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11984117	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35186400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57585161	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58807320	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59567057	0.92[EUR][1000 genomes]
rs6943391	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6943685	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6943711	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6943724	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6944261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6944268	0.92[EUR][1000 genomes]
rs6974007	0.92[EUR][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	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1029486	chr7:86856387-87121976	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv539004	chr7:86856387-87121976	Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1814401	chr7:86857553-87034167	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv1826474	chr7:86857553-87034167	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv428177	chr7:86857553-87034167	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv1024376	chr7:86905796-87129346	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv888678	chr7:86932085-87101407	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr7:86972000-86975200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:86972600-86976000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:86972800-86976000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:86972800-86976000	Active TSS	NHLF	lung
5	chr7:86973000-86975400	Active TSS	HMEC	breast
6	chr7:86973000-86975600	Active TSS	GM12878-XiMat	blood
7	chr7:86973000-86975800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:86973200-86975400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:86973400-86975000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:86973400-86975000	Active TSS	HUVEC	blood vessel
11	chr7:86973400-86975200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:86973400-86975400	Active TSS	Muscle Satellite Cultured Cells	--
13	chr7:86973400-86976200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:86973600-86975200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:86973600-86975200	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr7:86973600-86975200	Active TSS	NH-A	brain
17	chr7:86973600-86975200	Active TSS	NHEK	skin
18	chr7:86973600-86975400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:86973600-86975400	Active TSS	Stomach Smooth Muscle	stomach
20	chr7:86973600-86975400	Active TSS	NHDF-Ad	bronchial
21	chr7:86973600-86975800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:86973600-86975800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:86973600-86975800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:86973600-86976200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:86973800-86974800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:86973800-86975200	Active TSS	H1 Cell Line	embryonic stem cell
27	chr7:86973800-86975200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:86973800-86975200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:86973800-86975200	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr7:86973800-86975200	Active TSS	Brain Germinal Matrix	brain
31	chr7:86973800-86975200	Active TSS	Fetal Brain Female	brain
32	chr7:86973800-86975200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:86973800-86975200	Active TSS	K562	blood
34	chr7:86973800-86975400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr7:86973800-86975400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:86973800-86975400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:86973800-86975400	Active TSS	Rectal Smooth Muscle	rectum
38	chr7:86973800-86975600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:86973800-86975600	Active TSS	Brain Angular Gyrus	brain
40	chr7:86973800-86975600	Active TSS	Thymus	Thymus
41	chr7:86973800-86976000	Active TSS	Fetal Intestine Small	intestine
42	chr7:86973800-86976200	Active TSS	Fetal Intestine Large	intestine
43	chr7:86973800-86976800	Active TSS	Aorta	Aorta
44	chr7:86974000-86975000	Active TSS	Primary T cells fromperipheralblood	blood
45	chr7:86974000-86975200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:86974000-86975200	Active TSS	Osteobl	bone
47	chr7:86974000-86975400	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr7:86974000-86975400	Active TSS	Brain Anterior Caudate	brain
49	chr7:86974000-86975400	Active TSS	Brain Cingulate Gyrus	brain
50	chr7:86974000-86975400	Active TSS	Brain Inferior Temporal Lobe	brain

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