Variant report

Variant	rs1877156
Chromosome Location	chr1:226313671-226313672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr1:226312670-226313684	SK-N-SH	brain:	n/a	chr1:226313040-226313054

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226247784..226253760-chr1:226305545..226317702,29	MCF-7	breast:
2	chr1:226311060..226314029-chr1:226383239..226385017,2	MCF-7	breast:
3	chr1:226308185..226314044-chr1:226494990..226498119,7	K562	blood:
4	chr1:226310978..226313880-chr1:226320034..226321559,2	K562	blood:
5	chr1:226250361..226252761-chr1:226312416..226314743,2	K562	blood:
6	chr1:226313181..226318051-chr1:226333070..226339347,8	MCF-7	breast:
7	chr1:226245827..226258736-chr1:226304107..226314743,27	K562	blood:
8	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
9	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
10	chr1:226295676..226301816-chr1:226302378..226313716,36	MCF-7	breast:
11	chr1:226313633..226315169-chr1:226374399..226376035,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270598	TF binding region
ENSG00000234478	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000182827	Chromatin interaction
ENSG00000183814	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10915938	0.83[EUR][1000 genomes]
rs10915939	0.84[EUR][1000 genomes]
rs10915940	0.84[EUR][1000 genomes]
rs12069333	0.81[ASN][1000 genomes]
rs12130296	0.84[EUR][1000 genomes]
rs12136759	0.87[EUR][1000 genomes]
rs12145818	0.85[EUR][1000 genomes]
rs1219671	0.86[ASN][1000 genomes]
rs1877153	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1877155	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1877161	0.88[EUR][1000 genomes]
rs35152719	0.87[EUR][1000 genomes]
rs3887559	0.87[EUR][1000 genomes]
rs3892709	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4653715	0.86[EUR][1000 genomes]
rs67947191	0.87[EUR][1000 genomes]
rs72757092	0.87[EUR][1000 genomes]
rs9645314	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription 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	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226310400-226315200	Weak transcription	HSMMtube	muscle
2	chr1:226310400-226333800	Weak transcription	Small Intestine	intestine
3	chr1:226310600-226314600	Weak transcription	Lung	lung
4	chr1:226310600-226315000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:226310600-226315200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:226310600-226315200	Weak transcription	NH-A	brain
7	chr1:226310600-226315400	Weak transcription	HSMM	muscle
8	chr1:226310600-226315400	Weak transcription	HUVEC	blood vessel
9	chr1:226310600-226319800	Weak transcription	Right Ventricle	heart
10	chr1:226310600-226322400	Weak transcription	Right Atrium	heart
11	chr1:226310800-226314600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:226310800-226315200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:226310800-226315200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:226310800-226315400	Weak transcription	Primary T cells from cord blood	blood
15	chr1:226310800-226315400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:226310800-226331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:226311000-226315000	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:226311000-226315200	Enhancers	Primary B cells from cord blood	blood
19	chr1:226311200-226314000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:226311200-226315000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:226311200-226315000	Weak transcription	Placenta	Placenta
22	chr1:226311400-226315000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:226311400-226315000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:226311400-226315600	Weak transcription	Liver	Liver
25	chr1:226311400-226315800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:226312000-226315000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:226312000-226316400	Weak transcription	Gastric	stomach
28	chr1:226312800-226321000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:226313000-226314800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:226313000-226314800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:226313000-226314800	Weak transcription	HMEC	breast
32	chr1:226313000-226315000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:226313000-226315000	Weak transcription	Fetal Heart	heart
34	chr1:226313000-226315000	Weak transcription	Fetal Lung	lung
35	chr1:226313000-226315200	Weak transcription	Fetal Kidney	kidney
36	chr1:226313000-226316200	Weak transcription	NHLF	lung
37	chr1:226313000-226316400	Enhancers	Stomach Mucosa	stomach
38	chr1:226313000-226323200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:226313200-226315000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:226313200-226315000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:226313200-226315400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:226313400-226313800	Active TSS	Spleen	Spleen
43	chr1:226313400-226314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:226313400-226314400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:226313400-226314600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:226313400-226314600	Weak transcription	Esophagus	oesophagus
47	chr1:226313400-226314600	Weak transcription	Fetal Intestine Small	intestine
48	chr1:226313400-226314600	Weak transcription	Fetal Thymus	thymus
49	chr1:226313400-226314600	Weak transcription	Pancreas	Pancrea
50	chr1:226313400-226314600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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