Variant report

Variant	rs7535104
Chromosome Location	chr1:246944812-246944813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246940173..246942753-chr1:246943130..246945283,2	MCF-7	breast:
2	chr1:246942351..246945041-chr1:246952061..246954954,2	K562	blood:

Variant related genes	Relation type
ENSG00000223519	Chromatin interaction
ENSG00000227953	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11800375	1.00[EUR][1000 genomes]
rs11805816	1.00[EUR][1000 genomes]
rs11806722	1.00[EUR][1000 genomes]
rs11807103	1.00[EUR][1000 genomes]
rs11807233	1.00[EUR][1000 genomes]
rs12061420	1.00[EUR][1000 genomes]
rs12088097	1.00[EUR][1000 genomes]
rs12091757	1.00[EUR][1000 genomes]
rs12092189	1.00[EUR][1000 genomes]
rs12096743	1.00[EUR][1000 genomes]
rs12097308	1.00[EUR][1000 genomes]
rs13375472	1.00[EUR][1000 genomes]
rs1472276	1.00[EUR][1000 genomes]
rs2067915	1.00[EUR][1000 genomes]
rs3007328	1.00[EUR][1000 genomes]
rs59476689	1.00[EUR][1000 genomes]
rs6659764	1.00[EUR][1000 genomes]
rs6686324	1.00[EUR][1000 genomes]
rs6694181	1.00[EUR][1000 genomes]
rs6696599	1.00[EUR][1000 genomes]
rs73140244	1.00[EUR][1000 genomes]
rs73142251	1.00[EUR][1000 genomes]
rs73142256	1.00[EUR][1000 genomes]
rs73144222	1.00[EUR][1000 genomes]
rs73146692	1.00[EUR][1000 genomes]
rs73148612	1.00[EUR][1000 genomes]
rs7516596	1.00[EUR][1000 genomes]
rs7534805	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537256	1.00[EUR][1000 genomes]
rs7550911	1.00[EUR][1000 genomes]
rs9729188	1.00[EUR][1000 genomes]
rs9887864	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active 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	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
9	nsv1006262	chr1:246892826-246964775	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv523531	chr1:246893948-246967899	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
11	nsv999756	chr1:246894542-246969660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv1009436	chr1:246910373-246965832	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv873423	chr1:246923861-246978504	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv549545	chr1:246936353-246963019	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv2756894	chr1:246939856-246946021	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv2759013	chr1:246939856-246946021	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv3408268	chr1:246944429-246948627	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv1841827	chr1:246944502-246954313	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
2	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:246902800-246952800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:246905000-246945800	Weak transcription	Psoas Muscle	Psoas
5	chr1:246921600-246945800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:246923200-246945000	Strong transcription	Fetal Muscle Leg	muscle
7	chr1:246924400-246945800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:246925200-246952200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:246932400-246945800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:246932400-246952000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:246932600-246948000	Strong transcription	Liver	Liver
12	chr1:246932600-246948600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:246932600-246948600	Weak transcription	Esophagus	oesophagus
14	chr1:246932800-246945000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:246932800-246945600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:246932800-246945800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:246932800-246948800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:246932800-246952400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:246932800-246956400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:246933200-246945800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:246938400-246945800	Strong transcription	Fetal Stomach	stomach
22	chr1:246938400-246947200	Strong transcription	Fetal Intestine Small	intestine
23	chr1:246938800-246945000	Strong transcription	Placenta	Placenta
24	chr1:246939000-246945600	Weak transcription	Fetal Heart	heart
25	chr1:246939200-246945000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:246940200-246945800	Weak transcription	GM12878-XiMat	blood
27	chr1:246940200-246947600	Weak transcription	HUVEC	blood vessel
28	chr1:246940200-246948800	Weak transcription	Fetal Brain Male	brain
29	chr1:246940400-246945600	Weak transcription	Right Ventricle	heart
30	chr1:246940400-246945800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:246940400-246949000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:246940600-246945600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:246940600-246945800	Weak transcription	Primary T cells from cord blood	blood
34	chr1:246940600-246945800	Weak transcription	Ovary	ovary
35	chr1:246940600-246945800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:246940600-246948600	Weak transcription	Brain Angular Gyrus	brain
37	chr1:246940600-246948800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:246940600-246948800	Weak transcription	Fetal Kidney	kidney
39	chr1:246940800-246945000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:246940800-246945000	Weak transcription	HepG2	liver
41	chr1:246940800-246945200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:246940800-246945600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:246940800-246945800	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:246940800-246948000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:246940800-246951600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:246940800-246951600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:246941200-246945200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:246941200-246948200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:246941200-246952600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:246941600-246945000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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