Variant report

Variant	rs212431
Chromosome Location	chr7:105519824-105519825
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	chr7:105298862..105301241-chr7:105519713..105521805,2	K562	blood:
2	chr7:105514771..105518088-chr7:105519640..105522126,3	K562	blood:

Variant related genes	Relation type
ENSG00000128536	Chromatin interaction
ENSG00000146776	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17152243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs212432	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs212433	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv464669	chr7:105504201-105533735	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv608070	chr7:105504201-105533735	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs212431	LRWD1	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105518000-105526000	Weak transcription	Small Intestine	intestine
2	chr7:105518200-105520000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:105518200-105520000	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr7:105518200-105520600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr7:105518400-105520800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:105518400-105521000	Weak transcription	Esophagus	oesophagus
7	chr7:105518400-105562800	Weak transcription	Aorta	Aorta
8	chr7:105518600-105520000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:105518600-105520000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr7:105518600-105520000	Flanking Active TSS	NHDF-Ad	bronchial
11	chr7:105518600-105520000	Enhancers	NHEK	skin
12	chr7:105518600-105520400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:105518600-105521800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:105518600-105525600	Weak transcription	Left Ventricle	heart
15	chr7:105518800-105520000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:105518800-105520000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:105518800-105520000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr7:105518800-105520400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:105518800-105520600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:105518800-105521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:105518800-105524200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:105518800-105530800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:105518800-105548200	Weak transcription	Right Atrium	heart
24	chr7:105519000-105520000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr7:105519000-105520000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:105519000-105520000	Enhancers	Fetal Stomach	stomach
27	chr7:105519000-105520200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:105519000-105520400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr7:105519000-105520800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:105519000-105521000	Weak transcription	Gastric	stomach
31	chr7:105519000-105521000	Weak transcription	Pancreas	Pancrea
32	chr7:105519000-105521600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:105519000-105521800	Enhancers	Fetal Brain Male	brain
34	chr7:105519000-105532400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:105519000-105542600	Weak transcription	A549	lung
36	chr7:105519200-105520000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr7:105519200-105520000	Genic enhancers	Primary T cells from cord blood	blood
38	chr7:105519200-105520000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:105519200-105520200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:105519200-105520400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:105519200-105520400	Enhancers	Stomach Mucosa	stomach
42	chr7:105519200-105521000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr7:105519400-105520000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr7:105519400-105520000	Enhancers	Fetal Intestine Large	intestine
45	chr7:105519400-105520000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:105519400-105520200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:105519400-105520200	Enhancers	Fetal Intestine Small	intestine
48	chr7:105519400-105520600	Weak transcription	Fetal Heart	heart
49	chr7:105519400-105521200	Weak transcription	Liver	Liver
50	chr7:105519400-105525400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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