Variant report

Variant	rs1195631
Chromosome Location	chr16:74341902-74341903
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74338414..74342140-chr16:74346350..74349350,4	K562	blood:

Variant related genes	Relation type
ENSG00000260884	Chromatin interaction
ENSG00000239763	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11640132	0.80[CHB][hapmap]
rs11641324	0.80[CHB][hapmap]
rs11646302	0.80[EUR][1000 genomes]
rs11646702	0.80[CHB][hapmap]
rs1195629	0.89[YRI][hapmap]
rs12102785	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17334975	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17336867	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs4888212	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4889487	0.83[AMR][1000 genomes]
rs8047355	0.81[EUR][1000 genomes]
rs889641	0.95[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs961333	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9927929	0.87[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs9929390	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906900	chr16:73650853-74349043	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv906901	chr16:73752982-74455293	Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3505286	chr16:73985029-74382420	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3505287	chr16:73985029-74382420	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1066212	chr16:74068470-74527133	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv542954	chr16:74068470-74527133	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
9	nsv930993	chr16:74147464-74356710	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv1058208	chr16:74160074-74359324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv1056525	chr16:74186756-74356711	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv542955	chr16:74186756-74356711	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1055180	chr16:74189820-74359324	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv917046	chr16:74202828-74406136	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv833276	chr16:74216065-74438868	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	esv2758431	chr16:74334780-74587185	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	esv2758656	chr16:74334780-74587185	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
19	nsv833277	chr16:74334787-74498133	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
20	esv2762054	chr16:74337036-74507056	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
21	esv10189	chr16:74337046-74464266	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	n/a
22	nsv827736	chr16:74337046-74464266	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	13 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1195631	HYDIN	cis	parietal	SCAN
rs1195631	TSPO	trans	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74331800-74366400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:74332000-74342000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:74332400-74342000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:74332400-74342400	Strong transcription	Fetal Thymus	thymus
5	chr16:74332400-74342600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:74332600-74342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:74332600-74342000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr16:74332600-74342000	Strong transcription	Primary hematopoietic stem cells	blood
9	chr16:74332600-74342000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:74332600-74342400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr16:74332600-74342600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:74332600-74342600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr16:74332600-74342800	Strong transcription	Brain Substantia Nigra	brain
14	chr16:74332800-74342400	Strong transcription	Fetal Intestine Large	intestine
15	chr16:74332800-74342400	Strong transcription	Fetal Stomach	stomach
16	chr16:74332800-74342400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr16:74332800-74342400	Strong transcription	Thymus	Thymus
18	chr16:74332800-74342600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:74332800-74342600	Strong transcription	Fetal Brain Female	brain
20	chr16:74332800-74342600	Strong transcription	Fetal Muscle Leg	muscle
21	chr16:74332800-74401200	Weak transcription	Stomach Mucosa	stomach
22	chr16:74333000-74342400	Strong transcription	Liver	Liver
23	chr16:74333200-74342200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr16:74333200-74342200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:74333200-74343200	Strong transcription	Primary T cells from cord blood	blood
26	chr16:74333400-74342600	Strong transcription	Placenta	Placenta
27	chr16:74333400-74343400	Strong transcription	Fetal Lung	lung
28	chr16:74333600-74342000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr16:74333600-74342200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:74333600-74342400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:74333600-74342400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr16:74333600-74342400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:74333600-74342400	Strong transcription	Adipose Nuclei	Adipose
34	chr16:74333600-74342400	Strong transcription	GM12878-XiMat	blood
35	chr16:74333600-74342600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr16:74333600-74342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:74333600-74342600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:74333800-74342200	Strong transcription	Primary B cells from cord blood	blood
39	chr16:74333800-74342200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:74334000-74342400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:74334200-74342400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr16:74334200-74342400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:74334400-74342000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:74334400-74342400	Strong transcription	Brain Germinal Matrix	brain
45	chr16:74334600-74342000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr16:74334800-74342400	Strong transcription	Dnd41	blood
47	chr16:74338400-74342400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr16:74338400-74344000	Weak transcription	Psoas Muscle	Psoas
49	chr16:74338400-74359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr16:74339400-74342000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links