Variant report

Variant	rs6694047
Chromosome Location	chr1:151511695-151511696
allele	C/T
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	RCOR1	chr1:151511601-151513498	IMR90	lung:	n/a	n/a
2	SRF	chr1:151511617-151513275	HCT-116	colon:	n/a	chr1:151512198-151512213 chr1:151512167-151512180 chr1:151512164-151512182 chr1:151512201-151512212 chr1:151512197-151512214 chr1:151512197-151512215 chr1:151512168-151512182 chr1:151512165-151512183
3	SRF	chr1:151511595-151513140	HCT-116	colon:	n/a	chr1:151512198-151512213 chr1:151512167-151512180 chr1:151512164-151512182 chr1:151512201-151512212 chr1:151512197-151512214 chr1:151512197-151512215 chr1:151512168-151512182 chr1:151512165-151512183
4	NFIC	chr1:151511663-151513294	ECC-1	luminal epithelium:	n/a	chr1:151512276-151512292 chr1:151512275-151512292
5	SRF	chr1:151511641-151514138	MCF-7	breast:	n/a	chr1:151512198-151512213 chr1:151512167-151512180 chr1:151512164-151512182 chr1:151513413-151513423 chr1:151512201-151512212 chr1:151512197-151512214 chr1:151512197-151512215 chr1:151512168-151512182 chr1:151512165-151512183
6	SRF	chr1:151511610-151513770	MCF-7	breast:	n/a	chr1:151512198-151512213 chr1:151512167-151512180 chr1:151512164-151512182 chr1:151513413-151513423 chr1:151512201-151512212 chr1:151512197-151512214 chr1:151512197-151512215 chr1:151512168-151512182 chr1:151512165-151512183
7	SRF	chr1:151511637-151513006	ECC-1	luminal epithelium:	n/a	chr1:151512198-151512213 chr1:151512167-151512180 chr1:151512164-151512182 chr1:151512201-151512212 chr1:151512197-151512214 chr1:151512197-151512215 chr1:151512168-151512182 chr1:151512165-151512183
8	POLR2A	chr1:151511573-151514275	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr1:151511665-151513541	A549	lung:	n/a	chr1:151513413-151513423

No.	Distal block	Cell Line	Cell type
1	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
2	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
3	chr1:151494437..151499363-chr1:151510633..151514422,7	MCF-7	breast:
4	chr1:151510867..151515069-chr1:151533037..151539348,7	MCF-7	breast:
5	chr1:151510723..151515515-chr1:151802413..151805096,5	MCF-7	breast:
6	chr1:151511342..151513361-chr1:151529767..151532080,2	MCF-7	breast:
7	chr1:151510621..151512625-chr1:151802601..151805059,2	MCF-7	breast:
8	chr1:151298012..151299962-chr1:151511144..151512744,2	K562	blood:
9	chr1:151379379..151381233-chr1:151511239..151513051,2	MCF-7	breast:
10	chr1:151511592..151513482-chr9:113016876..113019727,2	MCF-7	breast:
11	chr1:151510726..151515686-chr1:151583230..151586215,6	MCF-7	breast:
12	chr1:151437130..151438728-chr1:151510858..151512482,2	MCF-7	breast:
13	chr1:151499502..151502122-chr1:151511648..151513316,2	MCF-7	breast:
14	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
15	chr1:151510509..151513919-chr1:151688057..151691918,3	MCF-7	breast:
16	chr1:151510534..151515854-chr1:151533093..151539013,11	MCF-7	breast:
17	chr1:151509848..151514263-chr1:151581077..151585541,5	MCF-7	breast:
18	chr1:151430095..151434593-chr1:151511133..151513913,5	K562	blood:
19	chr1:151429106..151432636-chr1:151510898..151514410,7	MCF-7	breast:
20	chr1:151431826..151434593-chr1:151511133..151514053,3	K562	blood:
21	chr1:151511022..151513078-chr1:151762186..151764520,2	MCF-7	breast:
22	chr1:151511637..151514253-chr10:74032442..74033943,2	MCF-7	breast:
23	chr1:151511607..151513918-chr17:57914768..57918620,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232536	TF binding region
TUFT1	TF binding region
ENSG00000143442	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000136810	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000159409	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143376	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11549248	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029082	0.85[EUR][1000 genomes]
rs12037928	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12044926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418823	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2096232	0.86[AFR][1000 genomes]
rs60322305	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6678068	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151484600-151512000	Weak transcription	Right Atrium	heart
2	chr1:151485200-151511800	Weak transcription	Fetal Brain Female	brain
3	chr1:151485800-151511800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:151485800-151512200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:151486600-151511800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:151486800-151512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:151487000-151511800	Weak transcription	Small Intestine	intestine
8	chr1:151493400-151511800	Weak transcription	Brain Anterior Caudate	brain
9	chr1:151493400-151511800	Weak transcription	Ovary	ovary
10	chr1:151493400-151512200	Weak transcription	Fetal Kidney	kidney
11	chr1:151494400-151511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:151498000-151511800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:151502600-151511800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:151503400-151511800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:151503400-151512400	Weak transcription	Esophagus	oesophagus
16	chr1:151503400-151512800	Weak transcription	Aorta	Aorta
17	chr1:151504200-151511800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:151507600-151511800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:151507600-151512000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:151507800-151512200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:151508000-151511800	Weak transcription	HepG2	liver
22	chr1:151508400-151511800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:151509400-151511800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:151509400-151511800	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:151510000-151511800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:151510000-151511800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:151510000-151511800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:151510000-151511800	Enhancers	NHEK	skin
29	chr1:151510000-151512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:151510000-151512000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:151510200-151511800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:151510200-151511800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:151510200-151511800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:151510200-151511800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:151510200-151511800	Weak transcription	Brain Substantia Nigra	brain
36	chr1:151510200-151511800	Weak transcription	NHDF-Ad	bronchial
37	chr1:151510200-151512000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:151510200-151512200	Genic enhancers	Fetal Intestine Small	intestine
39	chr1:151510400-151511800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:151510400-151511800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:151510400-151511800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:151510400-151511800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:151510400-151511800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:151510400-151511800	Weak transcription	Brain Angular Gyrus	brain
45	chr1:151510400-151511800	Weak transcription	HMEC	breast
46	chr1:151510400-151511800	Weak transcription	NH-A	brain
47	chr1:151510400-151511800	Weak transcription	Osteobl	bone
48	chr1:151510600-151511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:151510600-151511800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:151510600-151511800	Weak transcription	Rectal Mucosa Donor 29	rectum

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